CMT International was founded in 1984 as a registered Canadian charitable organization dedicated to helping people with Charcot-Marie-Tooth disease (CMT) and hereditary neuropathy with liability to pressure palsies (HNPP) better cope with their disease as they went about their lives.

During the following 18 years, more than 10,000 people in more than 40 countries received information kits on CMT; conventions were held, scholarships awarded, a website went up, an e-mail chat line flourished and the organization published 103 issues of the 32-page CMT Newsletter. In 2000 it became evident that most people looking for information on CMT and HNPP were finding CMT International through the internet. Postage, printing and maintaining an office was costly and my health was such that I could no longer be part of things without a great deal of pain.

In 2002, it was decided that CMT International would cease as an entity and information from the many back issues of the CMT Newsletter, much of it written by experts on the disease, be put on a website for everyone, everywhere, free of charge.This website will not be updated. See also the Resources/websites category on this site for other CMT websites.The information here is just that, information. It is provided with the best intentions but it is up to you to seek out a doctor who knows CMT or is willing to educate him/herself on the topic and discuss your own personal symptoms and treatment with him or her. We cannot assume responsibility for your health, your treatment, or what you do with the information supplied in this website. We just hope the knowledge gleaned by CMT International through you, the people who have CMT and the professionals who care for us, will help you in your search to better cope with your CMT.

All of the information on this site is protected by copyright. However it may be used elsewhere if the authors' bylines, where applicable, go with the items.

We know that balance, an unsteady gait and loss of sensation and movement in the hands and feet can be part of CMT no matter what age we are BUT when we are gaining in years we have to look at aging and CMT together. As we get older, we learn to recognize the effects aging has on us. We have to combine the effects of aging and CMT to really see how we are going to be in our older years.

A lack of good balance can be partially compensated for by the muscles in our feet, legs, back and even our neck. We can move our arms to help us balance, and seeing well also helps us send the right messages to the brain to balance correctly. The way we hear sound and our auditory nerves also work to help us balance. Something called proprioception or the body’s ability to know where it is in space also helps us stay upright. Many of us have to touch something to stay balanced.

As we age, our muscles are less able to help us balance, there just isn’t enough there to do what they used to, our eyesight isn’t as keen, our hearing isn’t as sharp, and our entire CMT-affected nervous system just doesn’t function as well.

It may have been fine for your husband to stand up while he got dressed when he was a little younger but he is going to have to sit down to put on his pants and his shirts from now on. It only makes sense. Some men, believe it or not, don’t know how to put on their pants unless they are standing up. I can’t help laughing at this; women have been doing it forever and it works just fine. The world won’t end if he has to sit down to pull on his trousers and it certainly doesn’t make him less of a man.

If he falls over when he tries to put something like a sweat shirt on over his head it is because he has to use his eyes for balance to tell his body where it is and when his line of vision is cut off he can’t see to tell his brain how to move his body to maintain his balance so he falls over. He’ll have to sit down to put anything on over his head too or brace his behind up against a wall with his legs spread like a tripod and bend a bit, close his eyes, and pop the sweat shirt over his head. This way he shouldn’t fall over. A very easy way to get dressed is to sit on a chair (preferably an armless chair) and have your clothes within easy reaching distance around you. Put on underwear first leaving the bottoms around your knees and your tops around your ribs. Most women can do up a bra in the front and turn it around if their hands or wrists are too weak to do it up in the back. Next, put on your shirt or blouse, your socks, your pants or slacks or skirt and then your shoes, doing them up. Then stand up and pull the tops all down to your waist and the bottoms all up to cover them and do up the waistband (Velcro on the waistband makes this very easy) and the zipper (a string, cord or metal ring looped through the zipper or a button hook used in the eye of the zipper pull will make this easy), then put on your belt or have it already in the loops when you pull it on and, voila!, you are dressed. A belt left in trousers that are hung upside down in a closet adds weight and helps to pull the crease back into the pant legs.

Remember that most of us have trouble buttoning anything whether we are old or young. If you are older when you discover that your fingers aren’t working, consider yourself fortunate; you have had many years of function that a lot of us haven’t.

Old-fashioned buttonhooks are really good for doing up buttons and they can be bought in most stores that sell devices for daily living. Or, you can sew the button on the front of the garment and Velcro circles on the back of the area where the button would have done up. When you touch the Velcro together it looks as though you have done up the shirt but you haven’t. It’s simple and fast. Also some of you may want to have your shirt sewn up the front. There are several seams up the front of a shirt or blouse and you can follow one of those seams so it will look very much as though you have done the shirt up yourself. Make sure the shirt is ironed perfectly, do it up and then sew it up… permanently. Leave the top two buttons open so you can pop it over your head to get it off and on. This also does away with the gap some women experience when they use their arms to lift their bodies out of a chair or up or down steps. A blouse that is sewn together cannot gape open showing camisole, slip or bra or more. Consider doing away with dresses that do up down the back if you have a problem doing them up and jewelry that is hard to do up. If you have someone to help you, fine. If you don’t, why frustrate yourself?

Walking usually deteriorates when we grow older. How many very old people do you know who walk with a spring in their step? Not many, I’ll bet. Well most of us with CMT didn’t have the spring in the beginning! Balance problems and muscles atrophying mean we can’t expect to walk the way we always have. I used to kid my 87-year-old mother-in-law that she walked sideways more than she did forwards. She’d laugh because she knew that’s just the way it was, and she didn’t have CMT. Many of us use wheelchairs or scooters in our 30s and 40s, so to have to use a walker or a scooter in your 60s or 70s isn’t out of the ordinary and it sure beats falling and breaking leg or foot bones, kneecaps or hips.

Handwriting is going to go down the drain in most instances, too. As the muscles in our hands atrophy we no longer have the control we once had, and let’s face it, beautiful handwriting is the desire to control the muscles to form what looks pleasing to us. I can always tell if someone has the CMT tremor, their handwriting reflects it, or if their hands are weak, the signature or writing is weak, and I can tell if you are having trouble holding the pen and even if you are unhappy. The letter or signature reflects it.

Many, many of us have learned to use computers and we have a new tool that opens up the world for us. It is nice to have your thoughts understood clearly by others and this is something that a lot of us have difficulty with because our handwriting tends to get worse with time.

There are no exercises that can be done as using a hand over and over again to do an exercise will only tire the nerves serving the muscles and the nerves can stop firing the muscles forever. There are no foot exercises to improve balance as you get older because the same thing happens there. What you can do as you get older is try ankle/foot orthoses (lightweight plastic bracing that goes down the back of the calf and under the foot); they’ve been known to help balance. Above all, keep yourself flexible. Stretching exercises will help this. When you stiffen up you tend to move unnaturally and, in doing so, can fall much more easily. Some people swear by yoga. Stay flexible and thin if possible; that’s about it. Why thin? Because it is easier to move if you are thin; you can bend more easily and it is easier to get dressed, lift yourself, and walk and move in general if you are carrying less body weight. Ever watch a fat lady try to cross her legs? Enough said!

1) ACCEPT IT— As much as it kills you and you feel as though your heart is breaking, you have to be brave. Age happens to all of us if we are lucky. Try to gracefully accept the fact that you or your loved one isn’t always going to be the way they were. CMT takes its toll and muscles and nerves deteriorate. Combine this with normal aging and the stresses and wear and tear of living, and your body shows signs of it all, just as your hair goes white or grey and your laugh lines become permanent fixtures.

2) ADAPT – Look around you for ways to compensate for what you have lost. If you don’t like white hair, you can colour it; if your eyesight is failing, wear glasses; if your balance is bad, you sit to do things and use a walker or scooter; if your fingers don’t work, you find a good buttonhook that you can manage and use that and you go to Dragon Dictate or buy a Mac with a built-in speech recognition program if you can no longer type. In general, you adapt and compensate because you must. There is no sense acting helpless; it only puts the burden on those who love you. Get in there and use your brain. All good inventions have come from necessity and you need something that will help you. I’ve seen all kinds of neat inventions worked out by people who have CMT to help them better cope. Zipper pullers, oven rack pullers, long shoehorns with wraparound handles so they can be more easily held, skate hooks on boots because we can’t pinch laces to feed them through eyelets, Velcro everywhere, and even homemade ankle-foot orthoses. You know no one can usually tell that we have anything wrong because our inventions and improvisations are all done so darn well.

3) DON’T SET YOURSELF UP TO FAIL – Use common sense – Work things out. If you know you can’t get those buttons open don’t buy the shirt or buy the shirt and the Velcro at the same time and have someone who can sew lined up so the whole thing isn’t a big deal, it just happens when you buy shirts; the same goes for pants and skirts. If you can tell that you are going to overbalance, sit down right away; don’t risk a fall and don’t risk looking like you can’t cope in the eyes of others. They already know you have trouble doing things but it helps if you don’t keep on making the same errors. Once or twice is cute or funny but an accumulation can lead to, “He doesn’t seem to understand that if he sits down to put on his pants he won’t fall over.” This is no longer a problem with balance and logistic but one of mind and aging and no one wants to be thought of as “losing it” mentally when it only takes a little thinking ahead to let people know we are still very much on the ball.

4) BE PATIENT with yourself. Slowly you lose the ability to do something, and if you haven’t accepted it and don’t adapt, you can become very impatient with yourself. Impatience leads to frustration and, in women, that usually leads to tears or throwing something and, in men, anger. SLOW DOWN, give yourself time to figure how to do things differently before you holler for help or get angry with yourself. Plan a line of attack BEFORE you try to get on that fancy blouse or knee-high boot that flops over sideways as soon as you get your foot into it. Give yourself the gift of time by not planning too many things for the day, by not pressuring yourself to perform too quickly in anything you do. Call you own shots.

Don’t be pressured, not by doctors, by loved ones, by anyone. I remember once seeing 11 doctors in two months. The result was something I call “doctor burnout” but it took that to teach me that I can always change a doctor’s appointment for another time if a referring physician makes an appointment for me and it’s too close to breakfast, if I can’t move that fast, if it bumps into something else. To make a 9 a.m. appointment I have to get up at 6:30 a.m. and I’m exhausted for the day. Take control and you’ll not be setting yourself up for failure, frustration, and perhaps even an accident.

Be patient with those who help you, too. Sometimes they don’t know how things should be done any better than you do. Remember the old joke about Ginger Rogers being smarter than Fred Astaire? Well, she has to be because she had to do everything he did but on high heels and backwards! If your caregivers are helping you, they are doing everything backwards from the way they would do it for themselves and trying to preserve your dignity at the same time, which in itself is something of a balancing act.

People who yell, curse and swear, throw things, or cry are also people who obviously haven’t learned to cope. If you do any of these things fairly regularly, take a long hard look at yourself and give yourself some real quality time to start sorting out your adaptation problems. You’ll be glad you did and so will those around you who feel your every emotion. Some people vent frustration by cursing and yelling. As long as your caregivers understand that it isn’t directed at them, why not, if it makes you feel better but, for some, it’s just not nice.

5) LEARN TO LAUGH – If you can laugh about the little things that really bug the hell out of you, you’ve got one of the biggest battles in life won. The laughter makes the chores easier and the person who helps you will do you up or pull up your pants or whatever with a smile instead of a frown, especially if you have one on your face as well. You both know that it isn’t the way you want things to be but it is REALITY and you do need help.

So, to sum it all up, learn to accept the fact that you need a little help and that Life = Stress, that’s the nature of the beast; Life + CMT = Stress x 2 for many of us, and a LONG Life + CMT = Stress squared. Learn to work around your problems and learn to adapt various things to serve your needs. Don’t set yourself up to fail by blindly trying things that you probably know you can’t do but don’t take the mental time to really figure out. Learn to be patient with yourself and your caregivers and learn to laugh at yourself and your problems. Considering the alternative to growing old, you aren’t really so badly off. CMT doesn’t kill; it just slows us down. Those of us with severe breathing problems have more to worry about than those who can’t do up buttons, so maybe counting a few blessings wouldn’t hurt, either. And even if your breathing is affected you have each day to celebrate because you made it through the night and, by gar, you are alive!

Try to make each day count, say something nice to someone every day, and when you ask for help try to say please and thank you every time. It lets the helper know that you care enough to remember the little things. I love you, if it’s appropriate, wouldn’t hurt once in a while either. With patience, care and love for yourself and the person you are helping, the two of you can do almost anything.

What about the what ifswith Linda Crabtree

Growing older is just a fact of life. Welcoming the years is sometimes not easy and can be frightening when you have a progressive syndrome such as CMT. Often, the ‘what ifs' crop up. What if I get worse, how will I manage? What if I have pain, what if I can no longer look after myself?...and on it goes. I've asked you for questions and I'm taking them to Dr. Greg Carter who will do his best to answer them. I am also printing some wonderful letters from you, our readers, sharing your experiences of living and growing older with CMT.I, too, fear the future, What if my husband dies before I do? Can I continue to live with this pain?One of our more experienced older readers said something so sane and comforting that I have never forgotten it. He said something like, "You just do it. Every year you cope and before you know it you are living your what ifs one at a time and getting through it." I guess that's what life is. Conquering one ‘what if' after another. We'll begin with your questions to Dr. Carter. I'll not use names because so many people asked almost the same question that I've bunched them into one, but you'll see yourself. One question asked by many who responded was: Q: How can we tell the difference between another CMT stage and natural aging. There are different responses we can take if we know which it is. Along the same lines - Can aging in any way cause our CMT to progress faster because as we grow older our bones, joints, muscles, etc. get weaker?Dr. Carter: That is an excellent question but somewhat difficult to answer. There has been an explosion of research on aging in the last decade, although not specifically aging with CMT. Aging, it seems, produces some neurological problems in and of itself. Aged people often have sensory (feeling) problems, particularly in their feet, which is why so many old people fall. They also have slowed reaction times and may develop slow movement in general, often resembling a mild form of Parkinson's disease. I'm sure you have seen the "old person shuffle." We all know, and experience, the decline in cognitive (thinking) abilities, that as best as I can tell, starts in the 40s (speaking personally here!). So take all of that and add it to CMT and you can well imagine the problems that older people with CMT have. Does aging actually accelerate the disease process? I doubt that but it certainly can make the symptoms worse for all the reasons I have noted above.Q: My concern is with the drugs that are prescribed for things like high blood pressure, high cholesterol, arthritis, and all the conditions that are generally related to aging. Sometimes the fine print mentions peripheral neuropathy but most doctors are not aware of these side effects. I know we must be our own advocates, but more information on drugs to be wary of would be helpful. And on the same topic - As we age, there is a tendency for us to look around for various drugs that might help the loss of muscle, pain, and general deterioration of our bodies. Aren't we taking chances if we ask doctors to give us prescriptions for drugs we might see advertised or hear about, which have been approved less than five years? Can doctors really be sure these will help our aging bodies and not be harmful for people like us who have neuromuscular diseases?Dr. Carter: Again, excellent questions. People with CMT have to be cautious about any drug they take and Linda has done a wonderful job identifying problem drugs for folks with CMT in the newsletter. You have to be your own advocate here. All people, but especially those with a chronic disease like CMT, need to be active participants in their healthcare. If you like your doctor but he or she doesn't know much about CMT then educate them! People with CMT should become experts in this disease since you have to live with it your whole life. Most good doctors would appreciate getting help in understanding the disease. Take the list of drugs published in the CMT Newsletter to your doctor. As for new drugs prescribed to you, ask him or her to run MedLine or MicroMedEx on-line searches to see if there are any contraindications to a particular drug. You always take a certain degree of ‘chance' when taking a new drug but sometimes the potential benefit is worth the risk. There are so many new drugs I can't really go in to specifics (that would take a book). You must look at each new drug you take, run the on-line searches with your doctor or, if you or your doctor are not computer people, ask your pharmacist to do this for you. Pharmacists are often better than doctors about keeping up with drug interactions and side effects because that is their main job and most modern pharmacies are equipped with computers that have programs that specifically look for problematic drug interactions or side effects.Q: I have a male CMT question for the doctor. Prostate cancer in the western world appears to be on the increase. Having CMT and the neuropathy problems that it encompasses are men with CMT within a predisposed higher risk category than someone without a form of neuropathy?Dr. Carter: Not that I am aware of, although I do not know of any research looking at that question specifically. Supposedly, all men, if they live long enough, will get prostate cancer but most men will die of something else before then (like heart disease). The big problem is early detection. Prostate cancer is definitely curable if detected early. Once it metastasizes outside of the prostate though, it is a bad disease.Q: Is CMT degeneration gradual or does it stay on a plateau for a while and then drop? I will seem to be going along at the same state and then suddenly realize I've lost some power in my fingers or some such. Am I just suddenly aware of it or does it suddenly happen? I'm 80.Dr. Carter: We studied strength and functional abilities in people with CMT over a 10 year period (for those interested the paper was published in the American Journal of Physical Medicine and Rehabilitation in 1995 and is on Medline. Search under CMT). Our conclusion was that the disease itself (i.e. the neuropathy) probably progresses fairly steadily and slowly. However, functional abilities seem to plateau and then drop off suddenly, then plateau again at a lower level, then drop off again after a period of time. We believe it is because a certain "threshold" of strength is needed to do a particular task (i.e. hold a fork). In reality, you are very slowly getting weaker but you don't notice it because you can still hold a fork (for example). Then one day you reach that threshold and you can no longer hold the fork. So all of a sudden you think you have gotten a lot weaker all at once because you are now dropping the fork. Does that make sense? Your particular situation is probably due in part to aging though, at 80 years old.Q: I watched my aunt and grandfather grow old with CMT (old was mid-70s in their generation). It wasn't the CMT itself, but CMT along with another disease that lowered the quality of life toward the end of their lives. So I'll ask: Is the quality of life of people with CMT lower than other elderly people because they have one more disease than everyone else to contend with?Dr. Carter: We are studying that question right now through a NIDRR (National Institute on Disability and Rehabilitation Research) grant. Our preliminary data would indicate yes, people with CMT do report a lower quality of life in certain areas. However we haven't fully analyzed the data yet so I can't really get more specific.Q: We know that if we exercise the wrong way we can cause our CMT to progress. By getting older we won't be able to do as much exercise. What could this do to our bodies having CMT? Could it put us between a rock and a hard place?Dr. Carter: Let me clarify that exercising the wrong way (overdoing it) could harm your muscles and make you weaker but it does not actually affect the neuropathy per se. Pool exercises (aqua-aerobics, etc.) are a great way to go for older people in general and particularly people with CMT. If you're in the pool you may be able to swim out from under the rock and escape the hard place.Q: Is there a limit to the amount of exercise regarding the use of my leg that I should do as I get old. I've had heart bypass surgery and am currently undergoing cardiovascular rehab treatment. It includes a stationary bicycle and treadmill. When I do not go to rehab I walk a mile. I am 66.

Dr. Carter: That is a tough question because you also have significant heart disease. Heart disease notwithstanding, for people with CMT that are able to walk reasonably well, I think 20-30 minutes daily or at least every other day of water exercise or stationary bike, along with a good stretching program and maybe some gentle weight lifting would be a good baseline. However, in your case, you need to follow the guidelines of your cardiologist and/or exercise physiologist in cardiac rehab.Linda here - Remember, in most cases, wrist weights are better for us than hand weights.Q: My main question is my eyesight. Is it bad because of CMT? If so I'd like to know why. I really have trouble reading. My eyes get tired. And my eyesight, both near and far sighted is more than awful. I'm 48 years old. And on the same topic - I, too, have problems with my eyes. I am 53 and I know that age has something to do with not being able to focus on close things very well. I have bifocals but still have to hold things at arms length to read. When I was first diagnosed I was told my eyesight was affected by CMT because the muscles around the eyes were working too hard. I have never heard anything about this since. So my question is, Is it aging, is it CMT or a combination of both?Dr. Gareth Parry answers this one: As the literature below shows, there have been occasional families with both neuropathy and optic atrophy but they are rare. Visual loss is not a feature of CMT in general. The symptoms described sound very much like the "normal" deterioration in vision with age. There is a tendency amongst both doctors and patients to attribute all ills to CMT. However, having one fairly common inherited, and therefore lifelong, disease unfortunately does not protect you from getting the normal ravages of age.Q: What worries me most about growing older is everything. Fears of the unknown. Where will my disease take me? Will I have to bear it alone, that is huge for me. I think about the physical limits I have now, and wonder how much more I will lose as I get older. Who will care enough about me to treat me with respect and dignity to the end of my days? I also have financial fears. I am on SSI now and receiving child support. Will it last? Will it always be available to me? How will I support myself if I didn't have that? I am enrolled in college, beginning January of 2001. I want to find something I can do to support myself if I have to. I am terrified that I will never be able to do it. I am 33 years old. College was impossible for me to do at age18. But, I am older and have learned some ways to deal with my limitations more productively. College is a reach into the unknown for me, but I feel I have to accomplish this for myself. Any suggestions? Thoughts as to how to get through would be wonderful. Linda here - Dr. Carter tossed this one back to me. I will say that if you have the strength and courage to get this far you'll have no trouble finding the answers to your questions as you come to them. A good dose of fear can be very healthy. It motivates us to really think and put into action things we might not do if we weren't faced with the ‘what ifs'. Dr. Carter suggested that you could use a good case manager to help you tap into federal and or local resources for people with disabilities. They are out there, why not use them to help you solve your problems as you work things through. Good luck. Q: My grandfather has CMT and is really affected. I was wondering if it is recommended to get braces if you are over 70. It was recommended that he get some but he isn't sure. He uses a walker, cane, scooter and wheelchair.A member who knows answers: I am 80 and use braces and love them. They help me walk better with a cane or walker and might help him get out of the wheelchair a little more. Age shouldn't keep any of us from trying. I was just sitting here thinking I was sorry I had concert tickets for tonight because I am so tired, but I am going to get dressed up and go early to get the handicapped parking place and leave whenever I feel like it. But I will go.

Q: I was wondering how we get doctors interested and to understand CMT. I seem to be having a hard time even piquing a doctor's interest even when I give them a book to read. For example: I need surgery and I was talking to my GP about it. I was concerned about the anesthetic they would be using. His reply was, "They will put in a tube and it will breathe for you." Then he couldn't even find the report or my X-rays. I then asked him if he had read the book I gave him, and he said, "Well, just part of it!" Not once has he looked at my feet even though I have diabetes as well as CMT. I just want a doctor who cares about me and to whom I'm not just another number! So how does one do that?Dr. Carter: Get a new doctor now. Any doctor who doesn't inspect the feet of a diabetic with CMT at every office visit is incompetent in my opinion.Q: My question re aging has to do with pain level. I'm 44 now and am on m.s. contin, amitriptyline, and an anti-inflammatory, naproxen. Assuming my pain level will increase with CMT's progression, how am I going to fight pain without becoming a drugged out zombie? Are there new and better pain killers on the way?Dr. Carter: Better treatments for neuropathic pain are already here and available. You are taking drugs that are "ancient" and only partly effective. Get your doctor to prescribe drugs like neurontin, topamax, lamictal, Effexor or other newer anti-depressants (that help like amitriptyline but have much fewer side effects), lidocaine patches, custom compounded topical creams. Find a doctor who has joined the 21st century. Get a referral to a pain specialist (often an anesthesiologist, physiatrist, or neurologist).Q: Do you think the research on myelin regeneration will be useful during our lifetime? Do you think research will be able to come up with something to treat CMT in the next 10 years or so?Dr. Carter: I certainly hope so, but I am not sure. The best treatment would be to correct the DNA errors that cause the disease. That technology is evolving as we speak. There is much cause for hope but as for the timeline to a cure, I am not sure.Q: I have carpal tunnel syndrome and had surgery about seven years ago. I got it back again because I type for a living. I also have osteoarthritis in my thumbs. My question is whether or not there have been any updates on tendon transfers? My hand specialist had suggested this back then but after some info in the newsletter I decided not to do it then but I was told as I get older they will only get worse the more I use them. They've gotten to the point where I need to have something done because of the pain all the time.Dr. Stuart Patterson, our hand surgeon, answers: Four separate issues appear to be at issue in this specific situation. 1) Pain in the thumb2) Carpal Tunnel Syndrome 3) CMT 4) OsteoarthritisPain in the thumb is not due to CMT. This can result from a number of conditions in the thumb area, including osteoarthritis and carpal tunnel syndrome. Tenderness over the base of the thumb, where it meets the wrist, is most commonly due to osteoarthritis of the thumb carpometacarpal joint. Pain in the muscle of the thumb, radiating into the fingers, can be caused by carpal tunnel syndrome(CTS). However, CTS most commonly presents with numbness, tingling or pins and needles in the thumb, index, long and ring fingers. This is most severe at night, or when holding objects, such as a book, telephone receiver or steering wheel.Tendon transfers are indicated for weak thumbs. The transfer is to assist in positioning the thumb for pinching or grasping activities. A tendon transfer will not help the hand with carpal tunnel syndrome or osteoarthritis. Severe, chronic CTS, that has caused permanent paralysis of the thumb muscles, may require a tendon transfer. This is unusual though.Someone with severe osteoarthritis of the thumb, in addition to CMT, may be better off with a hand based splint initially. If splinting, anti-inflammatory medications and steroid injections do not help, then surgery may be indicated. At that time a decision would need to be made based on the function of the hand. A joint replacement (with or without a tendon transfer) or fusion may be indicated.

Recurrent CTS is unusual. Surgical treatment for this is not as successful as the first operation. Other causes for numbness in the fingers should be excluded, including neck disorders, diabetes mellitus and the CMT disease itself.Q: I've seen my dad's legs deteriorate over the last several years. He has a lot of muscle atrophy and can't stand for very long or walk very far. Is this something we all have to look forward to as we get older? I know he could use a scooter or other help but his pride won't let him do it. My legs are also getting worse and I'm only 39.Dr. Carter: All people with CMT will have some deterioration of function with age but the disease is quite variable. Some people retain the ability to walk their entire lives, others require a wheelchair at a young age. There can be significant variability within the same family line too so I can't give you a more specific answer.Q: Has there been any evidence that links CMT and heart problems? My dad has had three heart attacks but only one he really knew about. As a result he only has about 20% of his heart muscle left. His doctors couldn't understand how this could happen without his knowing about it. So I'm kind of worried about this happening to me.Dr. Carter: The heart is not directly affected by CMT. However, a sedentary lifestyle, which many disabled people live, is associated with a higher risk for heart disease.Q: Aging and having a progressive neuromuscular disorder is a challenge. Can you give us something positive to go on?Dr. Carter: Exercise if you can. Eat well, keep your weight down. If anything is a magic bullet to aging it is exercise and nutrition. Have faith in a higher power and use prayer and meditation to help you cope with your problems. If you are depressed, get help. There are excellent medications for that now. Seek peers with the same problems you have. Get involved in helping the public and doctors better understand your disease. Find a hobby. Listen to good music. Linda and I prefer jazz. Put on some old classic Sinatra with the big band and have a glass of good Merlot. Life doesn't get any better than that...

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Anesthetics

​Charcot-Marie-Tooth Disease and Anesthetics

by Linda Crabtree with suggestions from Dr. Greg Carter

Many people don’t even think about anesthetics and their CMT until a couple of days before scheduled surgery. Here’s something you can read and heed. For any updates join CMTUS, a yahoo CMT group, and ask away.Before you have your operation:1. Make sure your doctor knows you have Charcot-Marie-Tooth disease and that s/he understands it. Most doctors don't know very much about neuromuscular disorders because they simply aren't taught well in medical school unless s/he goes for extra training as a neurologist and then it is all mixed in with about 40 other neuromuscular diseases.2. Make sure your doctor has the list of drugs you should not take because they could make your CMT worse. For an updated list go to CMTUS on Yahoo Groups or Charcot-Marie-Tooth.org or HNF.org3. Please make sure your doctor is totally familiar with the drugs you do take, even the over-the-counter remedies. If he doesn't know everything you take (and you may have to help him with some of the stuff especially if herbal or new) it could be a problem if he gives you something during an operation and doesn't know what else you are taking.4. Make sure your doctor knows about any allergies you may have to drugs or anything else.5. Make sure your anesthetist knows that because you have CMT your breathing may be impaired due to partial paralysis of your diaphragm. Your phrenic nerves that help activate your diaphragm could be affected by your CMT, which means that you do not breathe well. This could also mean that you are not able to breathe out well enough and cannot expel the proper amount of CO2 and end up with CO2 poisoning. Oxygen will not help this condition because supplemental oxygen saturates your blood and brain with oxygen, making it lazy (kind of like being stuffed after a big meal), and this actually suppresses your central (brain and brainstem) drive to breathe (i.e. your brain says, "Hey, I've got all this O2, why should I breathe.") Thus you start breathing less and you start retaining CO2. The CO2 is already in your blood but by not breathing well you don't get rid of it. If you do have too much CO2 in your bloodstream you'll probably have a whopper of a headache. Sitting in an upright position, arms up or over your head if easier to breathe that way, and nice long, slow deep breaths will do the trick. If this is not possible, a ventilator works but is only needed if you can't breathe on your own. There has been a lot of research done on CMT and breathing and the medical journal articles are available by searching the internet – try Medline.Your vocal folds could also be involved and he/she should be made aware of this if you know you have a partially or fully paralyzed vocal fold (cord).6. When at home, if you experience a bad headache, especially in the front of your forehead, upon awakening, you might consider having your breathing checked. This will entail having your maximum inspiratory pressure (MIP) taken and your maximum expiratory pressure (MEP) taken both sitting and lying down. It is lying down that most of us have a problem reaching the maximum expiratory pressure that most people can develop, because our breathing muscles are weak, and lying down we do not have the added benefit of gravity to help us move our diaphragm.7. When you are going to go into surgery make sure your anesthetist knows that you are to be kept warm at ALL timesthat your breathing tests should be done before you go in for surgery and the anesthetist and respirologist know of any possibility of complications that you should be kept under anesthesia as lightly as possible and for as short a period as possibleThat succinylcholine has been looked into as the possible cause of a problem for us, and while it did not cause a problem for the majority of people used in the research, if it can be avoided, it's a good idea that Charcot-Marie-Tooth disease is a neuromuscular disorder which affects not only the peripheral nerves but also the autonomic nervous system. There have been cases where a person's breathing has not been tested before surgery; they have been put under using the normal amount of anesthetic given an adult, and it has been difficult to bring these people back out of the anesthetic and some of them have gone on a respirator afterwards. This can definitely be avoided by educating the anesthetist BEFORE surgery that after surgery, proper toileting should be done. Toileting is a word that anesthetists use for moving around, coughing, deep breathing, expelling mucus and even vomiting to clear the system of the residue of anesthetics. Make sure you talk to your anesthetist about all of this and that he is aware that you may need special care after surgery to get you back to your old self as far as breathing goes.You can help yourself by trying to be as active as possible after surgery by standing if possible, walking, moving, doing whatever possible to keep your lungs going and the air getting right to the bottom. On some occasions lower lobe pneumonia has developed in people with CMT because they breathe shallowly in the first place, and with the residue of anesthetics, it is not easy for CMT people to clear their lungs. Some people with CMT lose their cough reflex. If you've lost your cough reflex, which means you really can't get behind a good cough and bring stuff up from your lungs, you have to make sure that your doctor, your surgeon and your anesthetist know about this as it could mean you need suctioning after major surgery.It is wonderful what anesthetics have done to make all kinds of surgery possible and surgery means that certain aspects of our CMT can be treated. Because anesthetics involve our whole body, but mainly our lungs, it is very important for anyone with CMT to make sure that their breathing is checked BEFORE any surgery, that your doctor, your surgeon and your CMT specialists are aware of your CMT, of any drugs that you should not be given, of the fact that you could be sensitive to adult doses of anything, of any allergies that you have, and the fact that your breathing could very well be compromised as research has proven that over 90 per cent of people with CMT have some kind of breathing related problem.

​Anestheticsby Dr. P.J. Halsall and Professor F.R. Ellis

People with neuromuscular disorders must take great care if they are to have a local or general anesthetic. Even someone with very mild, or non-existent symptoms, or someone who has a family history of a disorder, needs to let the anesthetist know well in advance so that tests can be carried out and proper care after the operation can be arranged.

Many people are afraid of having an anesthetic, mainly through ignorance, but when we look at the rate of complications and even deaths arising from anesthesia we see that it is in fact very safe. This safety is the result of a thorough understanding of the patient's medical condition with a careful assessment before the operation, marked technical improvements in monitoring facilities such as High Dependency Units (HDU) and Intensive Care Units (ICU).

Patients with neuromuscular disorders (NMDs) deserve special attention when it comes to anesthesia because many of the agents used (gases and chemicals) have effects on both muscle and nervous tissue. The main areas of concern are how the anesthetic agents will affect the muscle and how they will affect the heart which is itself a muscle. A skeletal deformity such as scoliosis, or curvature of the spine, can also affect the way the patient responds to anesthesia so it is important to consider that too.

Anesthetics and the heart

An article printed in the Winter 1995 No. 20 edition of The Search showed how people with NMDs can sometimes have associated heart disease. This can occur as a cardiomyopathy, when the heart muscle doesn't work effectively, or as a defect in the way the electrical activity of the heart is transmitted, a conduction defect. The anesthetic vapors, the smelly agents such as ether and halothane which are inhaled, can reduce the effectiveness of the heart's muscle contractions and also aggravate any conduction defect. The vapors are all slightly different from each other, some having more effect on the heart than others. So it is important that the anesthetist makes a good assessment of the heart's condition before the operation which would include the level of physical activity that the patient can manage, and an ECG. Occasionally a more extensive assessment is needed.

Anesthetics and breathing

Doctors need to measure how weak the patient's muscles are, usually by assessing the amount of physical activity that the patient can perform, and by taking a blood test to measure levels of a muscle enzyme, creatine kinase (CK). Any anesthetic agent which affects the muscles will also affect the muscles we use to breathe. Strong analgesic or sedative agents will affect these muscles indirectly, and muscle relaxants will have a direct effect on them. As breathing (or respiration) may already be difficult for patients with NMDs, these drugs should be used cautiously, and monitoring of breathing after the operation is absolutely essential. As a result, the patient is usually best cared for in a High Dependency Unit or Intensive Care Unit immediately after the operation. The muscles used for swallowing can also be affected which is another reason why good post-operative care is important.

Muscle Relaxants

Muscle relaxant drugs should only be used if essential because they tend to have a more profound and prolonged effect in NMD patients compared to other patients. One type of muscle relaxant, called suxamethonium, should usually be avoided. It causes the release of potassium ions (K+) from the muscle tissue into the blood. In normal patients this is usually of little practical significance. In patients with NMD the muscle may normally leak K+ so that a further increase in the levels of K+ in the blood may cause abnormal heart rhythms. A preoperative blood test to check K+ levels is therefore important.

Local anesthetics

A local anesthetic works by preventing the normal electrical activity in the nerve around which the anesthetic agents are placed. For minor procedures, such as stitches for cuts, they are probably the first choice for patients with NMD because they have few if any side-effects. However for major local anesthetic techniques, e.g. spinal or epidiural, careful assessment of the patient is needed and the type of NMD considered well before the operation.

Changes in body temperature and preoperative ‘starvation'

Patients with NMD do not tolerate changes in body temperature or the starvation often associated with anesthesia or surgery as well as normal patients, so steps need to be taken to minimize these problems by keeping the patient warm and well hydrated using drips.

Malignant hyperthermia (MH) and Central Core Disease

Malignant hyperthermia (MH) is an inherited disorder which causes an unexpected, sometimes fatal, reaction in the patient to certain anesthetic drugs. Because some patients with NMD have sometimes experienced similar problems during anesthesia there have been claims that patients with NMD may also have MH. However, it is generally accepted that the only neuromuscular condition truly related to MH is Central Core Disease (CCD), although this is not always the case. Patients with CCD should be considered potentially susceptible to MH unless proved otherwise by a special type of muscle biopsy which screens for MH. To sum up...

Clearly anesthesia in NMD is not to be undertaken lightly. Such patients should expect the anesthetist to make a careful and thorough assessment of their particular condition and their current state of health.They are not suitable to be treated as ‘Day Cases' because doctors should carry out preoperative investigations, and enough time and recovery facilities should be available after the operation.It is absolutely essential that the person affected by NMD should inform the anesthetist even if there are only minor symptoms, or no symptoms at all. Occasionally a neuromuscular disorder in a person who had no symptoms has come to light only because of an unexpected problem with anesthesia, particularly in young children. The anesthetist should also be warned if there is an inherited NMD in the family.If possible ask for the anesthetist to be forewarned before admission to hospital and consider wearing a Medic Alert bracelet or similar in case of accidents.It is always a good idea to make sure hospital staff have copies of Fact Sheets about your condition, and if you are going to have an anesthetic you could show your anesthetist this article.

The authors, Dr. Halsall and Professor Ellis, work at the Academic Unit of Anesthesia, St. James University Hospital, Leeds.

Reprinted with permission from The Search magazine, Winter, 1996 issue, published by the MDA-UK, and the April-May, 1997 issue of Living Smart.

​Oxygen is not for hypoventilation in neuromuscular diseaseE.A. Oppenheimer, MD, FCCP

This isn't an easy one to digest but it is important to know if a doctor ever wants to put you on oxygen because you are having chronic breathing difficulties. Read carefully and keep with your medical papers.

If progressive respiratory failure occurs in people with neuromuscular disease, an abnormal nocturnal oximetry study is often an early indication that hypoventilation is occurring. There are significant period of decreased oxygen levels in the blood or hypoxemia during sleep when lying flat, in addition to decreases in vital capacity (VC), maximum inspiratory force (MIF), and maximum expiratory force (MEF). Decreased oxygen saturation (SaO2) combined with increasing carbon dioxide (CO2) retention or hypercapnia are the hallmarks of hypoventilation. This is sometimes called ventilatory pump failure, due to the weakened respiratory muscles.

Patients with neuromuscular diseases who are developing progressive respiratory failure due to respiratory muscle weakness will die unless mechanical ventilation is used. The rate of progression is often hard to predict. Some patients seem suddenly to experience life-threatening hypercapnic respiratory failure. They may not have been aware of gradually increasing symptoms and signs, particularly since they are often not physically active and are often not being regularly monitored with simple pulmonary function tests.

Administering oxygen does not provide assistance to the weakening respiratory muscles, but gives both the patient and the doctor the false impression that appropriate treatment is being provided. While in fact hypoventilation is mistaken for an oxygen transfer problem. Indeed, administering oxygen can mask the problem. Also there is a danger of causing respiratory depression by giving oxygen. Oxygen is not the treatment for hypoventilation. It will improve the SaO2, but not the hypoventilation and may increase the danger of dying of sudden respiratory failure.In hypercapnic respiratory failure due to hypoventilation, the SaO2 falls due to the rise of the CO2. The alveoli in the lungs (tiny gas exchange units) should clear most of the CO2 out with each breath. Instead, with hypoventilation, CO2 accumulates and thus there is decreased room in the alveoli for oxygen. When mechanical ventilation using room air is provided, it lowers the CO2 in the alveoli, corrects the SaO2, and rests the respiratory muscles. The ventilator should be adjusted to achieve a normal SaO2, on room air. If oxygen is being administered, one cannot use noninvasive oximetry to tell whether enough assisted ventilation is being provided; repeated arterial blood gas specimens (ABGs) would be needed.

When there is respiratory failure in neuromuscular patients (ALS, post-polio, SMA, muscular dystrophy, etc.) who have no additional pulmonary disease that impairs oxygen transfer, the ventilator set-up is adjusted to:- be comfortable for the patient:- achieve SaO2 of 95% or higher on room air (this can be measured with a finger-sensor oximeter);- assist the patient to effectively cough and clear secretions;- provide improved oral communication (if vocal communication is possible).It has been common for people using noninvasive nasal ventilation (NPPV) with a bi-level positive pressure unit to use inadequate settings; frequently, they are not monitored with clinical evaluation and oximetry. The EPAP is often set too high - usually it should not be higher than 3-4 cm H2O; the IPAP is set too low - usually it needs to be 12-16 cm H2O and adjusted to achieve an oxygen saturation of 95% or higher.

Additional Observations about Oxygen in Neuromuscular Disease (referring to the above article)Anita Simonds, MD, FRCP, Royal Brompton Hospital, London, England (a.simonds@rbh.nthames.nhs.uk)I agree completely with Dr. Oppenheimer that assisted ventilation is the appropriate therapy for alveolar hypoventilation. Apart from a limited number of situations such as pneumonia or lung fibrosis, oxygen therapy is usually inappropriate and may prove hazardous. Clearly, in an acute pneumonia O2 therapy can be entrained into the ventilator system. Fortunately, in the United Kingdom, this message is getting across to healthcare workers and patients. There is still some inequity in providing noninvasive ventilation, but the situation is improving.

Lisa S. Krivickas, MD, Instructor in PM&R, Harvard Medical School, Director of EMG, Spaulding Rehabilitation Hospital (LKrivickas@compuserve.com)The analogy that I often use in regard to patients with respiratory failure from neuromuscular disease is that their lungs are like a deflated balloon which they are not strong enough to inflate. To inflate the balloon, mechanical assistance to force air into the balloon is needed. Blowing oxygen across the mouth of the balloon (the equivalent of using supplementary oxygen delivered by nasal cannula) will do nothing to inflate the balloon.

The case series published by the Mayo Clinic (see reference to Gay & Edmonds, 1995) demonstrates the dangers of administering as little as 1 to 2 L/min of nasal cannula oxygen. Patients with a variety of neuromuscular disorders experienced marked CO2 retention; several became obtunded and required intubation or died when they were placed on 0.5 to 2 L of nasal cannula oxygen.Reprinted from IVUN News, Spring 2000 Vol. 14 No. 9 with permission of Gazette International Networking Institute, 4207 Lindell Blvd., #110, St. Louis, MO 63108-2915. CMT Newsletter June/July 2000

Dr. Greg Carter comments on the same article:The articles written by Dr. Edward Oppenheimer and by my good friend Dr. Lisa Krivickas, are right on the money in pointing out that oxygen is not necessarily the answer for breathing problems in CMT. People with CMT have "weak bellows," in other words the muscles that bring air into and out of the lungs are weak. Since breathing out is primarily a passive activity the main problem is bringing air into the lungs and this is the job of the diaphragm, our main breathing muscle. Simply providing supplemental oxygen doesn't solve this problem at all since you still need to get the oxygen into the lungs. Further, too much oxygen can be dangerous and actually suppress the drive to breathe in some cases.Assistive breathing devices, such as bimodal positive airway pressure (BiPAP) are much more effective and actually try to correct the problem by assisting the weakened diaphragm by providing a positive pressure pushing air into the lungs. BiPAP takes a bit of getting used to but working closely with a skilled respiratory therapist under the supervision of a physician should help. Once the patient is set up with appropriate and comfortable pressure settings and a good fitting mask or other interface, they should begin feeling better quickly.

This is about the use of anesthetics both for dental work and particularly for surgery on the fingers or toes including the partial removal of toenails due to infections.What are the important things to know about the use of local anesthetics which could affect people with CMT?The discussions reminded me of a lecture/seminar in my graduate pharmacology course. We were on the topic of local anesthetics and the PhD pharmacologist was talking/going on about the virtues of adding adrenaline to a local anesthetic to reduce bleeding, and he said this would work well on a finger. I interrupted him with, "Oh NO you don't, the finger might fall off with gangrene." I told him and the class how, as student nurses, we were warned to never let the doctor use a combined local anesthetic with adrenaline in it when working on a toe or a finger requiring local anesthetic, i.e. suturing or removing things like nails, for just the above reasons.On checking in my pharmacology book (Goodman and Gillman's The Pharmacological Basis of Therapeutics 7th edition pg. 306) I find the following: ["...this (referring to the combination) is particularly serious when used in surgery on the digits on hands or feet. Prolonged constriction of major arteries in the presence of limited collateral circulation can produce irreversible hypoxic damage and gangrene." It adds, "In addition, the local anesthetics may interfere with the reparative processes of wound healing."]If anyone is interested, many of the side effects people have been describing, such as heart palpitations, feeling faint, sweating, being cold, etc., are also described in this text.

Anesthesia is safer now than it has ever been. This is particularly true for individuals who have medical problems, including patients with Charcot-Marie-Tooth disease. Two important reasons for this improved safety are better monitoring devices and shorter-acting anesthetics. How do these improvements specifically impact patients with CMT?

First, the last decade has seen the introduction of pulse-oximetry and capnography into routine anesthesia practice. Pulse-oximetry can measure the amount of oxygen in your bloodstream...a small "Band-aid" is placed around a finger, earlobe or toe, and a special light is passed through the finger and a receiver on the other side captures the light and is able to tell your anesthesiologist how much oxygen is in your bloodstream. This technology allows your doctor to watch how well your lungs are working to deliver oxygen to the rest of your body.

Capnography measures the amount of carbon dioxide that your lungs are producing, and this is an important way of detecting changes in your breathing while you are asleep for your surgery. Because breathing problems are an important cause of anesthetic complications, this monitor has improved our ability to detect problems early, thus decreasing serious complications. These monitors are important for CMT patients, since they may have lung problems which they don't know about.

New anesthetic drugs have the advantage of being shorter acting, so that patients wake up faster. This may be important for the CMT patient, since anesthetics depress breathing, and in the light of the potential lung problems in CMT patients, these newer drugs have an obvious advantage. These new drugs include propofol and desflurane.Since many patients with CMT have orthopedic surgery, usually on their legs or feet, the best choice for anesthesia would be a regional anesthetic such as a spinal or epidural. Both of these "numb" your body from the waist down and last for 1-3 hours or longer, depending on what type of anesthetic drug is used. These anesthetics avoid general anesthesia, which depresses the whole body. If your surgery is very minor, you may on need a local injection of anesthetic around where your doctor is going to do the surgery...this is the best choice, if possible, since you can recover quickly and go home.

Your anesthesiologist may speak to you the night before surgery, or, quite often, just prior to your surgery. This sometimes prevents you from having a lengthy and informative talk about your anesthetic. It is important that you have every question answered, so as to allay any fears. Several days before your operation, ask your surgeon who your anesthesiologist is going to be, and call him or her. Tell him/her about your CMT and any problems that you may have had with anesthetics in the past. In this way, you can make sure that they are aware of your condition, and they can develop an anesthetic plan that is safest and best for you.

Remember, the type of anesthetic you receive is a decision made by you and your anesthesiologist. There may be reasons why your anesthesiologist might recommend an anesthetic different from what you might be thinking about...every case has to be individualized. But rest assured that no matter what choice is ultimately made, anesthesia is safer than it has ever been!

Editor's note: - You have every right to know who your anesthetist is and to talk to him or her. If you do your planning ahead of time and let your doctor know you want to talk to your anesthetist, it can be easily arranged. Most people just leave everything in their doctor's hands and then they worry and stew. Have CMT information for him, make sure he has it and you have the answers you need.

ABSTRACT: Operative charts were reviewed in 86 patients with Charcot-Marie-Tooth disease, a condition characterized by chronic muscular denervation. A total of 161 surgical procedures was performed. Major complications were few, and one operative death occurred, unrelated to anesthesia. Succinylcholine and malignant hyperthermia triggering agents were used in 41 (48%) and 77 (90%) patients, respectively, without untoward effects. Contrary to previous reports, this survey supports the safe use of succinylcholine and MH triggering agents in this disease.

From the Department of Anesthesiology, University of California, Davis Medical Center, Sacramento, Calif.Accepted for publication 27th December, 1991.

Charcot-Marie-Tooth disease (CMTD), also known as hereditary motor and sensory neuropathy, is a rare neurological condition that affects peripheral nerves, primarily of the distal musculature.1.2 Denervation with subsequent muscular atrophy is the hallmark of this disease. There are only five reports of anesthesia in patients with CMTD. 3-7 with some raising the possibility of succinylcholine-(SCH)induced hyperkalaemia and one4 suggesting that these patients may be susceptible to malignant hyperthermia (MH). This report summarizes the anesthetic management of 86 patients with CMTD, many of whom received SCH and MH triggering agents safely.

MethodsQuestionnaires and medical release forms were sent to approximately 1,000 members of Charcot-Marie-Tooth International, an organization dedicated to helping patients with CMTD. Questions included age, anesthetic/surgical history, dates of diagnosis and onset of symptoms, severity of disease and history of familial problems with anesthesia and surgery. Most patients could not remember the disease severity adequately at the time of each procedure, so current severity is reported.

Medical records (anesthetic record, discharge summary, history and physical, recovery room record and preoperative anesthetic evaluation) were obtained and information regarding surgery, type of anesthesia and complications was extracted. Complete records could not be obtained on all of the respondents; however, no patient was included if an anesthetic record was unavailable or if the surgical procedure preceded the onset of symptoms.

ResultsOne hundred ninety-three questionnaires were returned. For several reasons (foreign hospital, surgery in remote past, incomplete records, etc.), medical records were obtained on only 86 of these patients, with 161 surgical procedures performed. For each procedure the age was 41 = 17 yr (mean = SD), range 2-75 yr; duration of symptoms was 23 = 14 yr, range 0-59 yr. Sixty-nine of 86 patients (80%) had symptoms in all extremities.

The majority (53%) of the procedures were orthopedic. Other surgery included peripheral (17%), intra-abdominal (7%), obstetrical/gynecological (7%), and miscellaneous (17%). General anesthesia was used for 139 procedures in 78 patients, while regional and local anesthesia were used for 22 procedures in 18 patients. Malignant hyperthermia triggering agents (succinylcholine and/or potent inhalational anesthetics) were given to 77 (90%) patients for 130 procedures.

Succinylcholine was used during 56 operations in 41 (48%) patients. Pre-treatment with a "defasciculating" muscle relaxant was used in 32 of these 56 exposures. A paralyzing dose of a nondepolarizing agent was used during 50 episodes in 39 (45%) patients: of these, 26 (30%) had pharmacological reversal. Complications included 19 (22%) patients who complained of "weakness" postoperatively, one unexpected admission to the intensive care unit secondary to postoperative hypotension, and two patients who developed pneumonia, one of whom died. There were no other deaths reported by family members. No complications occurred as a result of muscle relaxants, i.e., objective weakness, prolonged intubation or reintubation.

DiscussionAnesthesia in these CMTD patients appeared to be tolerated well with few complications. The only perioperative death was in a young girl who had severe restrictive lung disease and developed pneumonia subsequent to spinal fusion. Other complications were relatively minor. However, this survey is necessarily biased because information was obtained from patients who were able to respond, or from their parents. Since CMTD tends to be familial, this bias was minimized by requesting information regarding any family members who had had problems with surgery and anesthesia. Nonetheless, complications and deaths may have been under-reported. Also, this survey was retrospective, with sometimes incomplete data obtained from differing institutions. Such a data source could have obscured important trends in perioperative morbidity and mortality in CMTD.

Patients with CMTD have chronic denervation, often of all extremities. Since denervation is one of the most potent predisposing factors for release of potassium after exposure to SCH8.9 previous reports have cautioned against its use in CMTD. This survey indicates that SCH is well tolerated. While a small "defasciculating" dose of a non-depolarizing muscle relaxant may lessen the potassium release from diseased muscle,8 patients who had SCH alone had no apparent problems.

The massive release of potassium resulting from SCH is not an all-or-none phenomenon. A group of patients susceptible to this complication develop varying degrees of hyperkalaemia;10 some may manifest subtle ECG changes, some may develop peaked T waves, while others can have malignant arrhythmias and cardiovascular collapse. If CMTD patients were sensitive to the hyperkalaemic effect of SCH, some ECG and haemodynamic changed should have been found. Their absence indicates that SCH is probably safe in CMTD. However, because the plasma potassium concentration was not measured in these patients, the true risk is unknown. In addition, any acute exacerbation in CMTD may alter the amount of involved muscle and therefore change the sensitivity to SCH.

The range of age and symptom duration was wide, indicating that the degrees of chronicity was not an important influence on outcome. Also, symptom severity was not a factor. Nearly 80% of all patients had involvement of all extremities. Thus, regardless of whether a patient has had recent onset of symptoms or has had long-standing disease, SCH is well tolerated. Presumably, the process of denervation is much slower than the atrophic process, such that the amount of muscle which can release potassium is relatively small.

Very few patients developed pulmonary complications, i.e., pneumonia. In the past, pulmonary involvement in CMTD was thought to be uncommon. However, more recent data suggest that respiratory muscles may be affected, with a restrictive lung pattern predominating.11.12 The patient of the report by Brian et al,3 was ventilator-dependent for approximately one month following a Caesarean section. Involvement of the phrenic nerve13 and the nerves subserving expiratory muscles14 may have been responsible. Patients may have few or no symptoms despite considerable abnormalities in pulmonary function. The presence of proximal muscle weakness of the arms may be a predictor for respiratory muscle weakness.11

Theoretically, muscle weakness related to loss of motor units might sensitize a patient to nondepolarizing muscle relaxants. In this survey, however, no patient appeared to have any complications vis-a-vis muscle relaxants, i.e., prolonged block. This possible complication was probably adequately evaluated, as the nerves which are used clinically to monitor neuromuscular function may be affected by CMTD, including the posterior tibial, ulnar and facial nerves.One report has raised the issue of MH.4 While several neuromuscular diseases are associated with MH, based on our understanding of the pathophysiology of CMTD and MH, there is no reason to suspect that a connection between the two exists. Most patients received MH triggering agents without untoward effects. However, the relatively small sample size of this survey does not exclude a potential link.

The CMTD patients evaluated in this survey appeared to tolerate anesthesia well. Although SCH has been considered to be contraindicated in this disease, no complications occurred from its use in these patients who had chronic symptoms. An acute exacerbation, however, might render SCH use inadvisable. Other risks, including sensitivity to neuromuscular blocking agents and MH, are probably minimal. The possibility of occult pulmonary dysfunction should be considered, but, in general, the anesthetic management in CMTD can be adjusted to the needs of the individual patient.

ABSTRACT: Charcot-Marie-Tooth disease (CMT) is a hereditary degenerative disorder characterized by slowly progressive muscular atrophy of the extremities. There are many risks in the anesthetic management. The patients with CMT have a high sensitivity to thiopental, a prolonged response to muscle relaxants and autonomic disorder such as unstable hemodynamics. A 25-year-old man with CMT was scheduled for tarsal V osteotomy. Anesthesia was maintained with nitrous oxide in oxygen, fentanyl and propofol infusion. Vecuronium was injected according to NMT monitor. The operation was completed uneventfully and hemodynamics was stable intraoperatively. There was no prolonged response to propofol and vecuronium. In conclusion, anesthesia with propofol, fentanyl and vecuronium seems to be a good choice for the patients with CMT.

ANESTHETICS RESEARCH UPDATE re: THIOPENTAL by Linda Crabtree

Another research paper stuck out in the long list of new articles printed and it was titled, Motor and Sensory Disability has a Strong Relationship to Induction Dose of Thiopental on Patients with the Hypertrophic Variety of Charcot-Marie-Tooth Syndrome by Naoki Kotani, MD, et al appearing in Anesthesia and Analgesia Vol. 82, No. 1 Jan. 1996.

I asked Dr. Joseph F. Antognini, Department of Anesthesiology, U.C. Davis Medical Center, Sacramento, California what he thought about the paper. He wrote:

"Patients with CMT often require surgery, usually for correction of orthopedic problems, but also for any of the other ailments which can afflict humans. CMT patients are understandably concerned about the effects of anesthesia on their disease. A recent article published by Kotani, et al, documented increased sensitivity to thiopental in patients with CMT. What does this mean for you, the CMT patient? Should you avoid thiopental? What are the alternatives?

"Thiopental is an intravenous anesthetic that has been used for decades to induce anesthesia. It is a short-acting barbiturate which induces unconsciousness within 15-30 seconds, when given in appropriate doses.

"A closer examination of the paper by Kotani, et al, reveals that although CMT patients appeared to be more sensitive to thiopental (required less to ‘go to sleep'), all patients except one woke up quickly at the end of surgery, and thiopental was not the reason why this lone patient didn't awaken quickly. Although there are some methodological weaknesses to this study, the conclusions are appropriate...regardless of the patient, the anesthetist should always give the "right" amount of drug for each individual patient.

"I don't think that thiopental needs to be avoided in the CMT patient as long as it is given appropriately. As I have mentioned before, there are alternatives to thiopental and general anesthesia. A regional anesthetic, such as a spinal, is often a good choice. Newer anesthetic drugs which permit faster recovery can be used. Nonetheless, thiopental is still a good choice, and I don't think that the paper by Kotani, et al, should dissuade you or your anesthetist from using it."

The neuromuscular disorders described are divided into four groups: motoneuron diseases, peripheral neuropathies, disturbances of neuromuscular transmission and myopathies. In motoneuron diseases problems mainly result from respiratory insufficiency and the predisposition for aspiration caused by progressive muscular weakness. Depolarising muscle relaxants may elicit myotonic reaction and massive hyperkalemia. In contrast to non-depolarising muscle relaxants there may be an extreme hypersensitivity. In peripheral neuropathies the cardiac function is often limited whereby dysautonomia may enhance cardiovascular instability. The negative inotropic effect of anaesthetic agents must be observed with care and patients with higher degree of AV blocks may need a cardiac pacemaker during general anaesthesia. The Charcot-Marie-Tooth-Syndrome is characterized with a high sensitivity to thiopental. Disturbances of neuromuscular transmission frequently cause respiratory problems. The fluctuating weakness of bulbar and respiratory muscles may impair swallowing and can lead to recurrent aspirations. Due to the reduced number of acetylcholine receptors the sensitivity to non-depolarizing muscle relaxants is elevated and the response to succinylcholine is reduced.

Drugs reducing neuromuscular transmission such as antibiotics and beta-blockers may enhance these symptoms and should be avoided. In progressive muscular dystrophies the anaesthetic risk is mainly dependent on cardiac and respiratory impairment. Administration of succinylcholine leads to the risk of hyperkalmic cardiac arrest. Patients with metabolic myopathies are also at risk due to the involvement of cardiac muscle but respiratory problems are less frequent. Muscle metabolism should be supported by administration of substrates depending on the underlying disorder. In membrane disorders muscle rigidity (myotonic reactions) or weakness may lead to respiratory insufficiency. In addition to the depolarising muscle relaxants also anticholinesterase drugs, hypothermia and dyskalaemia can evoke myotonic reactions.

PMID: 11889613 [PubMed - in process]

Drugs which may aggravate or exacerbate CMT and HNPP

For an up-to-date list of drugs contraindicated for CMT go to www.cmtausa.org

Questions answered about the basics of CMT and what you need to know to look after yourself

SUMMARY - The author looks at Charcot-Marie-Tooth disease, a fairly common but little understood neuromuscular disorder also known as hereditary motor and sensory neuropathy (HMSN), and addresses the questions most often asked of her by people about their CMT. The answers have come through many years of working with people who have CMT and coping with it herself since age one. - Thanks to Dr. Greg Carter for vetting this article. - This article was updated in 2001 and 1997 and replaces Charcot-Marie-Tooth as a Disabling Disorder written by the same author and published in the Canada Family Physician Vol. 35: Feb. 1989

When I began working with my fellow CMT people in 1984, little was known about CMT, and most doctors considered it an extremely rare syndrome that affected us only from the knees and elbows down. Now, many years later, we are beginning to know otherwise. Not only is considerable research being done on the genetics of the disease but those in the various medical specialities are seriously looking at symptoms such as pain, gastrointestinal problems, hearing, eyesight and other symptoms that are being seen more often as more people with CMT are being diagnosed and step forward to be counted.

I am not a doctor but we here at CMT International work with many doctors, all interested in CMT, and I have met, talked with, and interviewed thousands of people who have CMT. What I am going to try to do here is to give you an eight page overview of CMT by answering the most frequent questions put to me throughout the years. I hope this format will give you answers to some of the things you want to know.

I'll provide you with enough information to seek out appropriate health care and to begin to understand what is going on in your own body so you can look after yourself. What I don't want to do is frighten you so that you do not want to carry on in your search for more information and a positive way of coping with your own particular case of CMT.

Remember, PLEASE, that very few of us have ALL of the symptoms I will speak about, most have two or three, and ALL of us experience CMT differently within the boundaries of the disorder.

I'm going to quote Dr. Sherwin B. Nuland who wrote in his book The Wisdom of the Body."...the only certainty I have ever known in my long clinical career in medicine: A disease presents itself in a unique form in each person it attacks, and it pursues a unique course. A good or a bad prognosis is a statement of probability, not of fact. Every individual responds to treatment differently than every other. Statistics and a physician's experience are useful only as general guidelines. Whether the numbers appear fair or foul, the outcome of your or my sickness is ultimately decided by unknowable factors within us. They will probably remain unknowable for decades or perhaps even centuries to come, or forever. The objectifications of biomedical science lead us ever closer to the real sources of healing, but long distances are still to be travelled."

Remember the above, please, because all through this article I will ask you to remember that the symptoms I refer to have affected the overallmass of people I have spoken to and seen but no one has all and most have only two or three. The treatments I am talking about work for some and do not work for others. Each and every one of us is unique with our CMT, there is no overall prognosis, there is no cure, but there are things you can do for yourself to make your life better, more productive and longer.

First the name. Charcot- (pronounced Sharko - he was French) Marie-Tooth disease or syndrome was named almost simultaneously by French neurologists Jean M. Charcot (1825-1893) and his student, Pierre Marie (1853-1940), and by Howard H. Tooth (1856-1926), an English physician.

If we were to lean on the side of research these days, I'd say the other name for CMT, hereditary motor and sensory neuropathy (HMSN) would be more correct, but, because so much research is going on, the entire classification for these diseases may change, so we'll stick with CMT for the time being. More than 100 years later, we know that Charcot-Marie-Tooth disease is much more complicated than was once thought. Of the entire classification of hereditary motor and sensory neuropathies (HMSN), CMT types are only a few of more than 20 types so far classified, and classifications are changing as geneticists find more variations all the time.

How did I get CMT?In most instances CMT is inherited. Chances are good someone in your immediate family, your mother or father, has CMT. If you have the most common type, CMT type1A, you would have had to inherit it directly from a parent who has it. That parent, however, may have it so lightly they don't even realize they have it. In CMT type1A, there is a 50 per cent chance at each conception that the child will inherit CMT. CMT can also be inherited in a recessive and an X-linked form and the odds of passing it on vary.

CMT can also be a spontaneous mutation. So there may not be anyone in your family who has it. You may be the first and you may pass it on. (Please see GENETICS -- The genetics of CMT and the present state of DNA testing, explaining the various types of CMT and the ways you can inherit CMT as well as the available tests involved to find out what type you have.) As research finds more types, it is a race to develop the tests to let people find out if they have that type or not. There are, to date, blood tests for five of the many types known and HNPP.

The most common type of CMT is caused by a duplication on the peripheral myelin protein (PMP) gene locus on chromosome 17; however, this accounts for only some of CMT 1 (i.e. 1A). Instead of a pair, we have three. The deletion of this gene causes hereditary neuropathy with liability to pressure palsies (HNPP), a disease with many of the symptoms of CMT but in addition severe numbness in sites where pressure is placed, such as when you lean on one arm or cross your legs. (Please see HNPP)

Will CMT kill me?A lot of people are afraid to ask. Let's get it out of the way. CMT will not kill you but, I must add, because some people with CMT experience paralysis of the diaphragm muscles that help our lungs function and allow us to breathe, CMT can weaken us to the point where it becomes a secondary factor in our death. When our diaphragm becomes paralyzed, our breathing is impaired, and we have a difficult time recovering from pneumonia. Sometimes our cough reflex is also impaired or lost, so CMT can indirectly be the cause of death if your breathing is impaired in a major way and you get pneumonia or develop emphysema from smoking. Other than that, most of us wear out from work rather than rust out from sitting on our duffs. We're an intelligent, busy, active crowd who don't feel sorry for ourselves in any way and just keep plugging.

What can I expect down the road? That all depends on how much your CMT affects you now. Remember that quote I asked you to digest. All of us are different. Some of us play tennis into our 60s and 70s, while others are having surgery to simply allow them to walk at 15, and others are in a wheelchair by 40. We are all so different that no one can tell you exactly what to expect and don't believe them if they do.

What can I do to help myself?You can make sure you know that there is a list of drugs you should not be taking when you have CMT. These drugs alone can make you much worse. (Please see DRUGS for information about drugs and vitamin B6 which you also shouldn't take. Most people don't think of vitamins as harmful but vitamin B6 and, indeed, massive doses of some other vitamins can harm us. Smoking is very hard on the nervous system and alcohol is toxic, so why mess with something that is already struggling to survive. You'll be better off if you don't smoke or drink or drink very little.

What about taking vitamins?There is some evidence that the vitamin CoQ10 can help us a little. It is preliminary work, and nothing much else has been reported on it, but some of us take CoQ10 and we seem to breathe more easily and have a little more energy. The literature says 120 mgs a day were given research subjects. Some of us take a little less with good results over time. It is available at health food stores. Research is ongoing.

Is there anything else I can do?Yes, you can learn to pace yourself. The basics of CMT is that it is a genetically inherited problem of the nerves. It affects the peripheral nerves (the ones that serve the muscles of the legs and arms and just about everything else except the brain and spinal cord ) and we are finding that it affects all kinds of muscle groups. I'll explain how it works. When the brain sends out a message, say to your toe to move, the message zots through all kinds of nerve pathways to finally hit the toe muscles, which contract, and your toes move. If you picture the nerve as having insulation on it, like an electric wire (and we all know a wire doesn't work if the insulation is shot), and the insulation or myelin on the nerve is there in patches but not in a continuous cover, the message can't get through to the muscle correctly, and no matter how hard you try, that muscle will not work. If you keep pushing that message down those nerves with impaired myelin on them the nerves eventually say, "To heck with you, I'm not going to take any of the message anymore," and the nerve, and thus the muscle, just stops working. When the nerves die or are severely impaired, you can only get a flicker of movement and sometimes you can't move it by thinking about it at all. That's what happens if you overwork a muscle served by a CMT affected nerve. It can just give up. So, learning to pace yourself is very important.

Running a marathon because you can do it, isn't smart; working until 11 every night isn't smart; trying to be a super mom is just plain nuts. You last a lot longer if you learn to pace yourself. Your body needs rest not punishment. No amount of exercise or pushing will make up for the torture you've put it through trying to prove that you can lick this thing. You can't lick it but you sure can learn to live well with it. (Please see WELLNESSwhich points out the signs and symptoms of CMT and helps you cope.)

Exercise: isn't there something I can do?Absolutely. There isn't any reason why you can't exercise within reason. If you are swimming, don't get exhausted until you shake. If you are bicycling, don't go until everything you have burns. With CMT, pain does not make gain; it means we are harming ourselves, and we are going to have to cut back.

Many people with CMT exercise, and they do everything from bicycling (actual or stationary), walking is a favorite, to stretching or working out, sitting down if their legs and knees won't hold them. (Please see EXERCISE which explains how you can tell if a muscle is served by a CMT affected nerve. If you work those muscles, you can do damage; however, if you take the time and effort to find out which muscles you have that are NOT served by CMT affected nerves, you can likely strengthen them to help the ones that are affected carry on longer.

You talked about balance - is it always affected?In many of us, the inability to balance is one of the first things we notice. We just have to reach out and touch something for that little bit of balance we need to stay standing still. I'll talk about balance more when I talk about bracing and surgery. Please see WHEN YOU FALL for information that helps you avoid a fall and cope with the ones you have.

If lack of balance is one of the first signs of CMT, what are the others?We notice young children who have CMT sometimes walk on their toes and complain of being tired often. Indeed, fatigue is one of the prime symptoms of CMT. One of our advisors put the fatigue problem well when she said that people with CMT are trying, with vastly impaired nerve function and atrophied muscles, to do in the same time and at the same pace what normal people are doing. No wonder they are tired! That doesn't mean we are looking for pity or asking for help, we just have to think smarter and learn to pace ourselves...do as much as we can with what we have.

Some of us first notice that we are beginning to trip a lot. This is because the peroneal muscle down the front of our lower leg is often the first muscle to go. CMT was once called peroneal muscular atrophy (PMA). The peroneal is the muscle that helps us lift or dorsiflex our feet. If we don't lift our toes properly, we trip. Stairs become difficult as we lose muscles in the feet and ankles, we trip up steps and up curbs, and ankle sprains become common.

Some people also notice that their knees begin to give out for seemingly no reason.

Our hands can also become weak, and many of us lose some of the strength in our thumbs, which means we cannot pinch to do up buttons or pick up coins or small objects, and holding a pen for any length of time can be impossible...it just falls away.

Some of us who have had symptoms of CMT since we were a young child have severe foot, leg, hand and arm involvement and total paralysis is possible, although you'd be surprised what you can do with totally paralyzed feet or hands. With bracing or surgical fusing, and the determination along with the smarts to think things out, most of us manage to be pretty independent even if we are badly affected. The ability to stoop, bend and squat can be impaired if and when the leg, thigh and lower back muscles become affected. With weakness can come considerable cramping.

Some people lose the feeling and the movement in these areas, some just the feeling but retain the movement, and some just the movement so, again, we are a diverse lot.

You mentioned breathing, what else can CMT affect? Breathing can be affected in some of us and so can hearing, vision, the neck and shoulder muscles; we can have scoliosis or what we used to call curvature of the spine; hip sockets can be malformed; gastrointestinal problems can be part of CMT, as can chewing, swallowing, speaking (our vocal cords can atrophy); and a tremor can develop so we have a little shake in some areas. But I must stress again that we are all different and not many of us have all of these symptoms; in fact, most of us have only two or three. Again, see WELLNESS for more on this topic.If breathing can be affected, what about anesthetics?A lot of people who experience breathing problems with their CMT know they have dysfunctional breathing and are being treated for it. Often CMT breathing problems are misdiagnosed as asthma. One sign of breathing problems is being winded for seemingly no reason or having a very bad headache first thing in the morning. This will go away as you go about your business but sometimes leaves you feeling tired and foggy all day. This is a buildup of CO2 in your bloodstream that should have been exhaled during the night but because you weren't breathing out very well, you were lying down and didn't have the benefit of gravity to help you, the buildup occurred and the headache. Elevating the legs at the head of your bed a couple of inches can often help this. CoQ10 helps too (see WELLNESS). A good respirologist can check out your breathing for you. (Please see BREATHING for information that will help you understand what CMT breathing problems are all about, and also ANESTHETICS because it is so important that your doctors know you have CMT before you have surgery that requires an anesthetic.

People with CMT should be kept warm before, during and after surgery to preserve precious energy, thus hasten their recovery. Some of us use so much energy trying to keep our body warm during surgery that we are physically exhausted after surgery.

What about pain?I'm not going to say that people with CMT do not experience pain because we know very well that we do, and it is sometimes very debilitating muscle or nerve pain. A group of research doctors have done a large pain survey on our members and the results say that, for some, pain is one of the most debilitating symptoms of CMT.

Everything possible is being done to recognize CMT pain, to figure out how to treat it and to make sure people who have CMT get that treatment, but it is going to be a long hard road. Because you can't see pain, can't feel it in someone else, and can't register it on anything, you have to go by the report of the person who has it. Research has always based its conclusions on things they can measure. Anecdotal reports or the hearsay of patients isn't something hard research can trust but, when it comes to pain, they are beginning to realize that the words of the person actually experiencing the pain is all they are going to get.

Treating CMT pain is a long and sometimes difficult thing. Drug therapy such as neurontin works for some but some cannot tolerate the sedating effects of many pain killers; heat and/or cold will sometimes help; some people have had success with acupuncture and others with a TENS or transcutaneous electrical nerve stimulation device.

There are many different kinds of pain and as many ways to treat it.

You can learn to live with CMT pain. I say that from experience. It isn't easy, and the pain is always with you, but you do go on. BUT, and it is a big but, it is far better to treat your body well so you do not end up in a lot of pain. However, in many cases, nothing the person could have done would have prevented it in the first place, so no one with CMT pain should ever blame themselves. And, don't forget, not everything we'll experience healthwise will be caused or be part of our CMT. Look elsewhere when you are searching for a cause and cure for pain and other symptoms. Blaming everything on CMT can mean you could miss something that is treatable.Again, I have to say, we are all different. Most of us don't have pain or you might not have any pain for years. Then, as you begin to "wear out," so to speak, with simple aging, you develop pain from just living. (Please see PAIN for information that will give you further insight into the treatment of CMT pain.)

What about bracing?When ankles and knees and feet and hands weaken, they can be [afo] braced. Even your neck and spine can be braced, but most of us live all our lives without any bracing, except for the simple light plastic ankle/foot orthoses that many of us wear to help prevent footdrop. I don't know how many calls and letters I've had from people who were absolutely delighted with their newfound ability to walk quickly and smoothly wearing their new AFOs. Custom-made ones are best, and expect alterations until they feel right for you and don't hurt.Some people don't even need AFOs but manage very well with sensible flat shoes, probably lace-ups, and some only need in-shoe orthotics that can't even be seen. A lot of people with CMT wear athletic walking shoes all the time, and high-tops can really help stabilize the ankle if you're into sports. (Please see BRACING, also FEET.)

Simple wrist braces can help a person work longer, but getting away from the type of work that puts undue stress on any part of your body is the smartest way to go when something is weakened. Figure out why it's weak, and then don't do it. That's fine advice if the activity isn't one you must do, like walking, breathing or eating. If you stand on your feet all day, or your job demands that you walk many miles a day, and your legs, ankles and feet are suffering, try to find another job somewhere with the same company that doesn't demand you do this. For instance, if you keypunch all day long and your fingers are getting so weak you are making mistakes, try to develop further skills so you'll be eligible for another job where keypunching isn't the main activity. Your fingers won't get stronger keypunching but will continue to weaken, and that weakness will carry over into your personal life and include everything from preparing meals to making beds and wiping your behind. This is serious stuff; you have to be aware of what is happening to you and beware of occupational hazards. Even a hobby can weaken you if it is repetitive and you are continuously working muscles that are served by CMT nerves.

What about surgery instead of bracing?That's a big question and one each individual has to answer for himself. There are surgical procedures that will fuse your ankles, feet and toes and wrists, hands and fingers, but do you want it done. It is permanent in most instances and means you have to compensate for something that won't bend for the rest of your life. I've lived with fused feet, ankles and toes for more than 40 years and walked pretty well for 30 years because of these surgical procedures. Now my knees have gone and I can no longer hold myself up. Rather than go to full bracing from my hips down, I have opted to use an electric scooter or a wheelchair when I'm outside. These mobility devices get me around just fine. In my heart, I simply could not go to a full-length brace; so, you see, it's up to you what you do for your CMT. Know your options and make your choice. Just know that if you neglect parts that with bracing would remain viable for years, you are, in fact, damaging your body through neglect and not realizing your full potential.

Like those people who said no to AFOs for years because they didn't like the look of them and then found out they could out-shop their daughters when they wore them...orthotics and all of these helping aids are there to make us better not to push us down. When they call a scooter a mobility device, I laugh; I call mine Freedom! (Please seeHELPING AIDS for information that gives you ideas to help yourself and addresses for catalogues. It also includes toileting aids and driving aids and where to get them.)

Corrective orthotics built into regular shoes, custom-made shoes, ankle/foot orthotics, canes, crutches (mainly the Canadian style that do not go under the arm), walkers, manual wheelchairs, electric scooters and electric wheelchairs cover the range of aids to help mobility that most people with CMT will try during the progress of the disease. Some will need one or two as they live with the disease, some none, and some will use almost all during a life span.

How do I know if I really have CMT or could it be something else?Blood tests have been developed that will pinpoint the location of five types of CMT and HNPP. Geneticists are working on describing the locus of other forms of CMT and more blood tests are actually in the works. As soon as the locus is found, a test can be designed to find that particular type in a person's genetic makeup. No truly reliable prenatal test has been established yet but it is also being worked on.

Physicians also commonly use several other tests to make the CMT diagnosis. An electromyogram (EMG) tests the irritability and function of muscles, while tests of motor-nerve conduction velocities (MNCV) establish the ability of nerves to send and receive impulses. MNCVs are tested using surface electrodes, following standard techniques. Reflexes are also examined, and muscle strength is tested. A detailed family history also helps establish which type of CMT is present. Sometimes, a nerve biopsy is taken but, with all the other tests available now, nerve biopsies are not really needed. (Please see DIAGNOSING for information that explains the complete diagnostic procedure for CMT.

I didn't know I had CMT, it is a complete surprise for me and some of the other members of my family. Is this common?It sure is. I don't know how many times I've had people call me to say they've always known something was wrong but they didn't find out what it was until their grandchild was diagnosed at two or three years of age. It was only then that their daughter found out she had it, and they took a good look at themselves and back to their mother or father and grandparents. Sure enough, Grandma Jones had a funny walk and didn't some of her sisters and brothers also have problems, and now look at us. A lot of lightbulbs go on when one person in a large CMT family is finally diagnosed. Often, it is with relief that everyone finally knows what the problems are...affirmation can be a wonderful thing; you aren't crazy after all.

Science doesn't really have a handle on CMT yet. They are still finding and learning but they are a lot further along than they were 50 years ago and even five years ago. The answer is coming, and when we have the answer, we'll have treatments and maybe even a cure. But, we must live well in the meantime.

A few other quick questions that are often asked of me:My doctor told me that 50 per cent of my children will have CMT, is that true? I mean if I only have one child, what will happen?What the doctor means is that with conception there is a 50 per cent chance of any child you may have having CMT. This applies to the autosomal dominant type only. All or none or some of your children could have CMT if you have it, depending on the type you have. (Please see GENETICS.)

Is there any special diet I can eat that will help?No, not really, but not drinking alcoholic beverages, smoking or becoming overweight will help

Will electrical stimulation treatments help me?There has been no evidence that electric shock therapy to the nerves and muscles helps over time. Some of our members have paid for long sessions of this type of therapy and have unfortunately experienced no long-lasting benefits.

Will CMT affect my ability to drive?The ability to use your feet when driving can be lost when and if we can no longer lift our foot from gas to brake fast enough to pass the tests of the Motor Vehicles Board of Examiners. Hand controls are the answer in this situation. I've been able to drive for more than 30 years with hand controls. If you can pat your head and rub your belly, believe me, driving with hand controls is a cinch. A grip you can place your hand in, mounted on the steering wheel, means you can steer safely no matter how weak your hands. (Please see HELPING AIDS.)

Is there a doctor near me who knows about CMT?We have a list of doctors all over the world who know about CMT but they are generally found in big cities and are specialists. Most general practitioners in most towns and cities in North America and, indeed, the rest of the world will know virtually nothing about CMT. It is going to be up to you to educate him or her, and you can do it by learning all you can about yourself and your CMT.

Neurologists can diagnose, and some will treat you for pain; anesthetists often treat for pain; orthopedic surgeons can fuse and do muscle, tendon and ligament work on your hands and feet, spine and hips, orthopedic surgeons can also suggest bracing; orthotists can make braces; respirologists can diagnose breathing problems; physiotherapists can help keep you flexible and suggest ways to let you work out without harming yourself; an occupational therapist can help you adapt your living and working conditions to your changing capabilities; a physiatrist, who is a specialist in physical and rehabilitation medicine, can help with many aspects of your CMT because he knows the body and what we need to cope with the changes; your general practitioner should be able to help keep your everyday concerns under control and refer you to the specialists you may need from time to time.

I was told CMT can't affect the very young so why has my two-year-old granddaughter just been diagnosed?CMT can show up in the very young, and there is something called CMT Plus that actually seems to reverse the development of a young child. Thankfully, it is rare. CMT can show up in teenagers, in the middle-aged or in persons nearing retirement. There seems to be no set time when it manifests itself. It does not seem to affect longevity, although I have to qualify that by referring back to the ‘but' I wrote on pneumonia and breathing problems. If your breathing is affected and you get pneumonia and are not treated, or you are given improper anesthetics and your breathing is affected, CMT can contribute to your death.

Can I stop my CMT?No, but people with CMT have been known to reach a plateau. It's a strange word meaning to stay the same for a period of time...some 15 or 20 years.

What happens to make you worse again?Sometimes nothing, it is just time for your body to change. Sometimes the aging process can start things up again, menopause, childbirth, major stressors like the death of a loved one, a bad case of the flu, a car accident, losing your job or a divorce. Stress is a hard thing to measure because no one but you ever knows what you were like before the stressor occurred. There isn't any literature on stress making CMT worse but we have heard from hundreds of people who have experienced an exacerbation of their CMT after a major stressful event in their lives. A visit to the family doctor with symptoms of chronic fatigue, sleeplessness, aches and pains, constant falls, and problems with feet and hands can be the beginning of a search for an easier, less demanding lifestyle. Part-time work is the answer for some, while others retire from work earlier than usual, and still others take a disability pension if the extent of the disability makes working entirely impossible.

Those most severely affected emotionally seem to be persons who, for many years, thought that there was nothing wrong with them and suddenly experienced loss of function in either hands or feet and were thrown into the world of disability completely unexpectedly. (Please see STRESS.)

Can CMT affect my sex life?In some cases - yes. Some of us lose the ability to feel touch in our genitalia, some women cannot experience orgasm, some men cannot maintain an erection. We have a publication expressly written for people who have CMT who want to know the possibilities regarding their sex life, but remember what I said at the beginning about all of us being different. (Please see SEXUALITY & SEX for information about many of these problems.) Don't count yourself out until it happens and even then there is help. We also have information in WOMEN with CMT, directed specifically at women's personal problems.

What about having children?This concern has been debated over and over for years in the CMT Newsletter. There are always arguments, pro and con, but the answer always comes out the same: you must follow your heart in these very personal matters. None of us would be here if our mothers had all said they were not going to have children because her child could have CMT. I, for one, am very glad I am here, and I know some terrific people with CMT including doctors, lawyers, judges, pilots, nurses, writers, researchers, even a rocket scientist, who have made wonderful contributions to this world. It's what's in the heart and mind that counts. (Please see PREGNANCY for information that will reassure new mothers but it doesn't debate the question of whether you personally should have children or not.) We discuss the question of testing in TESTING/TELLING. Testing to determine if an unborn child has CMT is available providing the mother has been diagnosed with CMT1A or HNPP. Also, preimplantation genetic diagnosis (PGD) is being developed so a child can be born without CMT. We also have information in CHILDREN & YOUTH that addresses some of the problems we face when raising a child with CMT.

Can I live a quality life with CMT?You bet you can, but it takes a lot of coping. You have to learn to listen to your body and not abuse it, and learning to pace yourself may be one of the hardest things you ever do. You may lose your job because of your CMT and have to retrain in mid-life or go on pension. However, when I look at the many thousands of people I have talked to and written about who have CMT, in spite of the fact that for all there are undeniable periods of grieving, depression, confusion, frustration and anger, I have no doubt that the majority feel their lives worthwhile, and most have a smile on their face. Life goes on, CMT or not; the ones who survive are the ones who accept their CMT, do what they can, with help, to make the best of it and learn to live well with it. We're here to help.

We have information in GRIEVING that could help you get through the initial periods of adjusting to CMT and on to the fast track of living with it.

To the best of our knowledge the information contained herein is correct and up to date but we cannot be held liable for errors or omissions. Please contact your doctor for more information and know that there are many sites on the WWW featuring more information on CMT and HNPP.

CMT, MS & MD - What's the difference?by Dr. Greg Carter

CMT, multiple sclerosis, and muscular dystrophy are all three completely separate and distinct problems. Remember that our neuromuscular system really starts at the brain, which is the master computer, and sends signals to the motor (muscles) via the spinal cord (an intermediate connecting cable) which hooks up to the peripheral nerves (the connecting lines between brain and muscle).

For the sake of understanding, I will simplify this a bit: I think everyone who reads this newsletter knows what CMT is but for those who don't, it is primarily a disease of the peripheral nerves (the connecting lines between brain and muscle). CMT causes weakness and impaired sensory perception because the signal can't get to and from the brain to muscle and skin, among other things. The muscles will shrink as they aren't getting the proper signals but the muscles themselves are not directly diseased per se.

Muscular dystrophy is a disease directly of the muscle itself and this causes weakness of varying degrees (there are many forms of MD). Sometimes the heart can be involved because it is a muscle too. Also, the lungs can be affected because the breathing muscles are weak (similar to CMT, although in CMT it is because the phrenic nerves are affected which in turn weakens the diaphragm, our main breathing muscle).

Multiple sclerosis is a disease of the brain and spinal cord. It can affect both movement and sensory perception and sometimes, thinking processes.

Now we can go on and on about more subtle distinctions, but I think that if one can understand those differences then you should be able to know most of where the problems lie in these disease processes.

Bracing

There are new types of bracing being developed all the time. Get on the internet and the chat lines and talk to people with CMT who use them, see a recommended orthotist, and, whatever you do, don't let your feet hurt. A good brace should not and will not hurt. A good brace can also change your life and give you freedom. They're worth exploring if you are having trouble walking or standing still.

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Bracing Available for CMT Feet and Ankleswith an introduction by Linda Crabtree

One of the first symptoms of CMT is usually the weakening of the peroneal muscle down the front of the shin, in fact CMT was once called peroneal muscular atrophy. When this muscle becomes weak, we aren't able to dorsiflex or pick up our foot as easily and we trip, often going up curbs and steps and "stubbing our toe."

In time, this muscle weakening can lead to complete foot-drop and the foot has to be lifted from the thigh and slapped down on the ground, hopefully heel first. This slapping action gives many of us what is sometimes called by the medical profession an "equine gait." If you look at a walking horse you'll see it brings its foot up by using its upper leg. This slapping action also gives us the sound recognizable as a drop-foot walk.

Keep your eye open for people on TV who have a drop-foot walk. The late British actor, John Thaw, featured in the PBS murder mysteries "Morse" walked with a drop foot. The condition isn't caused only by CMT, anyone with peripheral atrophy can experience it and peripheral atrophy can be caused by conditions other than CMT. People who have had a stroke often have foot drop on the paralyzed side.

When you've had enough tripping and falling, you'll look around for the best way to correct the foot-drop that causes it. Surgery is one avenue to explore and for some it is definitely the way to go. However, to have your feet and ankles fused is time-consuming, painful and, in most cases, permanent. There is no going back.

On the other hand, ankle-foot orthoses (AFOs - simply meaning bracing for the ankle and foot) can be taken off if you wish and various styles are available for a variety of foot-drop types.

For those who can no longer mover their ankles, there are small, light polypropylene, short, one piece AFOs that slip on over your sock and fasten with Velcro around your upper ankles. Your foot and the brace go into your shoe and the AFO holds your ankle at a right angle so it no longer drops.

For those with some movement left in their ankles, there are several types of hinged AFOs.

For those who have a lot of strength in their ankles but much instability, there are alternate bracing devices such as the air-stirrup (Air-Cast) , the Caligamed ankle immobilizer, as well as the RocketSoc.

Some basic thoughts regarding bracing and CMT are:

· Bracing can add to your life in wonderful ways. Without all the falling you'll have more confidence in your walk and walk more.

· Bracing is a plus, not a minus. It helps muscles that can no longer work to keep going.

I'm often asked if it can also speed atrophy of muscles being used now. My answer to this is that the right AFOs, fitted by a good orthotist, will take advantage of what you have going for you and add more. Sometimes a brace will take over for an atrophying muscle but most of us cannot exercise a muscle served by CMT-affected nerves back into shape anyway. If you do not brace it, it is going to atrophy with use; if you brace it, it is going to atrophy as well, so it isn't a matter of stumbling along until you crawl; it's a matter of being able to tell when you need the help of a brace and going for it.

Search out the best orthotist you can find, and above all, don't buy off the shelf. Your AFOs should be custom made to your feet.Good luck!

Breathing

CMT and BreathingA compilation of articles about breathing, breathing machines and sleep. Introduction by Linda CrabtreeBreathing problems associated with CMT are often ignored because most doctors don't know they can be part of the disease. What to do if you think you have CMT related breathing problems:• Show all of these breathing pages to your general practitioner.• Have your doctor send you to a respirologist or cardio-pulmonary specialist. • Suggest that your maximum inspiratory pressure (MIP) and maximum expiratory pressure (MEP) be tested both sitting and lying down. The latter is very important because your diaphragm could be weak.• If you are having bad morning headaches you could be retaining CO2. The above tests will show that.• You can elevate the head (from the waist) of your bed two or three inches by putting bricks under the legs or a suitcase under the mattress. • You can try taking the supplement CoQ10. It has helped some of us with breathing problems. Give it at least six months and take from 80 to 120 mgs a day. Discuss this with your GP.• You can keep your weight down. • Make sure you have had a pneumonia immunization shot (ask your GP) and treat respiratory infections aggressively. You don't want pneumonia. Many of us with CMT breathing problems live active, good lives thanks to treatment and/or mechanical breathing aids. You will, too!

​Breathing problems in CMTby Charles K.N. Chan MD, FRCPC

Diaphragms are the most important muscles for breathing. The function of diaphragms requires stimulation by the phrenic nerves. Phrenic nerve impairment leading to diaphragm weakness or paralysis is an uncommon but severe, and potentially fatal condition if not recognized. The key to making the right diagnosis is a high index of suspicion for the presence of this condition. Of the hereditary neuropathies, CMT disease or hereditary motor and sensory neuropathy is undoubtedly the most common. CMT disease is characterized by chronic degeneration of peripheral nerves and roots, resulting in muscle wasting, beginning in the feet and legs and subsequently involving the hands. The association of CMT disease with diaphragm weakness resulting in major breathing difficulty was first reported by us in 19851.

In 1985, my colleagues and I at Yale diagnosed a paralysed diaphragm in a 72-year-old woman who had CMT for about 60 years 1-2. Looking back, this patient had major difficulties with her breathing for about 10 years. Unfortunately, physicians caring for her did not appreciate the possible link of CMT with phrenic nerve impairment and thus diaphragm weakness or paralysis because it was not previously reported. As a result of the paralysed diaphragm, this patient suffered major complications in her heart and lungs and had impaired mental function. Even when the diaphragms are not working, most patients breathe reasonably well in the upright position with the help of gravity and the other breathing (accessory) muscles in their necks and chests. However, when they lie down the benefit of gravity is lost and the work of breathing required of these accessory breathing muscles increases. This is the reason why the very first indication of diaphragm weakness is difficulty breathing lying down. Over a period of time, months to years, the overworked breathing muscles become tired. The consequence of that is inadequate breaths which leads to a long-term deprivation of oxygen.

The effects of poor breaths and lack of oxygen can be summarized in the following categories: (1) The major impairment in breathing and oxygen intake is obviously at night during sleep when patients are lying flat, and since the brain needs a good supply of oxygen, any major drop in the oxygen supply will alert the brain. The response is awakening of patients from sleep so they can sit up to breathe deeper in order to get some oxygen into the blood. When these episodes occur repeatedly during the course of 7-8 hours sleep, major deprivation of sleep and rest follows. Because of these events during the night time, patients with these sort of problems typically complain of morning headaches, daytime sleepiness and poor mental function. (2) A long-term lack of oxygen means strains on the heart and lungs and will lead to major impairment of the heart and lung functions. The results are heart failure, presenting as swelling of the ankles, poor exercise tolerance, generalized weakness, and in severe cases, death.

Our patient experienced most of the adverse outcomes mentioned. Over a period of years, her breathing muscles became so weak that she was found at home almost dead with major breathing difficulty on her own. She was then put on a breathing machine and was transferred to a chronic ventilator hospital because it was felt that she would never come off the breathing machine and thus requires institutionalization. However, after the diagnosis of a paralysed diaphragm was made, we were able to remove the breathing machine from her during the day and put her in an upright position to maximize the benefit of gravity. At night time, she is maintained on a simple breathing machine, which she learned to operate on her own in a short period of time. Currently, I am delighted to report that our patient is living on her own at home, functioning independently and can finally breathe after 10 years of agony.

Since there was nothing in the medical literature on diaphragm impairment or breathing problems in CMT, we decided in the fall of 1985 to conduct a series of lung and diaphragm tests on the brother of our patient. He also has had CMT for about 45 to 50 years. To our surprise, even though he has minor difficulty with his breathing, his diaphragm turned out to be substantially weaker than most healthy individuals in his age group. That is why we became concerned that diaphragm weakness leading to breathing difficulties may actually be a late and perhaps rare complication in people with CMT. And especially in those individuals who have other medical problems that may affect the phrenic nerves and/or the diaphragm, such as diabetes.

With the collaboration of Mrs. Carol Barker of Connecticut, we have assessed two additional people with CMT in the State of Connecticut, one of these also had significant weakness of her diaphragm although it was much less severe compared to our index patient. After presenting these observations at the American College of Chest Physicians annual scientific meeting in September of 1986, we are pleased to report that similar patients were seen by some of our Chest colleagues in the United States.References:1. Chan CK, Mohsenin V, Ferranti R, Virgulto J, Loke J. Diaphragmatic dysfunction in association with Charcot-Marie-Tooth disease and diabetes mellitus. Chest 1986, 89: 454S.2. Chan CK, Mohsenin, V, Loke J, Virgulto J, Sipski ML, Ferranti R. Diaphragmatic dysfunction in siblings with hereditary motor and sensory neuropathy (Charcot-Marie-Tooth disease). Chest 1987, in press.

Oxygen is not for hypoventilation in neuromuscular diseaseE.A. Oppenheimer, MD, FCCPThis article is so important I put under both Anesthetics and Breathing - LindaThis isn't an easy one to digest but it is important to know if a doctor ever wants to put you on oxygen because you are having chronic breathing difficulties. Read carefully and keep with your medical papers.

If progressive respiratory failure occurs in people with neuromuscular disease, an abnormal nocturnal oximetry study is often an early indication that hypoventilation is occurring. There are significant period of decreased oxygen levels in the blood or hypoxemia during sleep when lying flat, in addition to decreases in vital capacity (VC), maximum inspiratory force (MIF), and maximum expiratory force (MEF). Decreased oxygen saturation (SaO2) combined with increasing carbon dioxide (CO2) retention or hypercapnia are the hallmarks of hypoventilation. This is sometimes called ventilatory pump failure, due to the weakened respiratory muscles.

Patients with neuromuscular diseases who are developing progressive respiratory failure due to respiratory muscle weakness will die unless mechanical ventilation is used. The rate of progression is often hard to predict. Some patients seem suddenly to experience life-threatening hypercapnic respiratory failure. They may not have been aware of gradually increasing symptoms and signs, particularly since they are often not physically active and are often not being regularly monitored with simple pulmonary function tests.

Administering oxygen does not provide assistance to the weakening respiratory muscles, but gives both the patient and the doctor the false impression that appropriate treatment is being provided. While in fact hypoventilation is mistaken for an oxygen transfer problem. Indeed, administering oxygen can mask the problem. Also there is a danger of causing respiratory depression by giving oxygen. Oxygen is not the treatment for hypoventilation. It will improve the SaO2, but not the hypoventilation and may increase the danger of dying of sudden respiratory failure.In hypercapnic respiratory failure due to hypoventilation, the SaO2 falls due to the rise of the CO2. The alveoli in the lungs (tiny gas exchange units) should clear most of the CO2 out with each breath. Instead, with hypoventilation, CO2 accumulates and thus there is decreased room in the alveoli for oxygen. When mechanical ventilation using room air is provided, it lowers the CO2 in the alveoli, corrects the SaO2, and rests the respiratory muscles. The ventilator should be adjusted to achieve a normal SaO2, on room air. If oxygen is being administered, one cannot use noninvasive oximetry to tell whether enough assisted ventilation is being provided; repeated arterial blood gas specimens (ABGs) would be needed.

When there is respiratory failure in neuromuscular patients (ALS, post-polio, SMA, muscular dystrophy, etc.) who have no additional pulmonary disease that impairs oxygen transfer, the ventilator set-up is adjusted to:- be comfortable for the patient:- achieve SaO2 of 95% or higher on room air (this can be measured with a finger-sensor oximeter);- assist the patient to effectively cough and clear secretions;- provide improved oral communication (if vocal communication is possible).It has been common for people using noninvasive nasal ventilation (NPPV) with a bi-level positive pressure unit to use inadequate settings; frequently, they are not monitored with clinical evaluation and oximetry. The EPAP is often set too high - usually it should not be higher than 3-4 cm H2O; the IPAP is set too low - usually it needs to be 12-16 cm H2O and adjusted to achieve an oxygen saturation of 95% or higher.

Additional Observations about Oxygen in Neuromuscular Disease (referring to the above article)Anita Simonds, MD, FRCP, Royal Brompton Hospital, London, England (a.simonds@rbh.nthames.nhs.uk)I agree completely with Dr. Oppenheimer that assisted ventilation is the appropriate therapy for alveolar hypoventilation. Apart from a limited number of situations such as pneumonia or lung fibrosis, oxygen therapy is usually inappropriate and may prove hazardous. Clearly, in an acute pneumonia O2 therapy can be entrained into the ventilator system. Fortunately, in the United Kingdom, this message is getting across to healthcare workers and patients. There is still some inequity in providing noninvasive ventilation, but the situation is improving.

Lisa S. Krivickas, MD, Instructor in PM&R, Harvard Medical School, Director of EMG, Spaulding Rehabilitation Hospital (LKrivickas@compuserve.com)The analogy that I often use in regard to patients with respiratory failure from neuromuscular disease is that their lungs are like a deflated balloon which they are not strong enough to inflate. To inflate the balloon, mechanical assistance to force air into the balloon is needed. Blowing oxygen across the mouth of the balloon (the equivalent of using supplementary oxygen delivered by nasal cannula) will do nothing to inflate the balloon.

The case series published by the Mayo Clinic (see reference to Gay & Edmonds, 1995) demonstrates the dangers of administering as little as 1 to 2 L/min of nasal cannula oxygen. Patients with a variety of neuromuscular disorders experienced marked CO2 retention; several became obtunded and required intubation or died when they were placed on 0.5 to 2 L of nasal cannula oxygen.Reprinted from IVUN News, Spring 2000 Vol. 14 No. 9 with permission of Gazette International Networking Institute, 4207 Lindell Blvd., #110, St. Louis, MO 63108-2915. CMT Newsletter June/July 2000

Dr. Greg Carter comments on the same article:The articles written by Dr. Edward Oppenheimer and by my good friend Dr. Lisa Krivickas, are right on the money in pointing out that oxygen is not necessarily the answer for breathing problems in CMT. People with CMT have "weak bellows," in other words the muscles that bring air into and out of the lungs are weak. Since breathing out is primarily a passive activity the main problem is bringing air into the lungs and this is the job of the diaphragm, our main breathing muscle. Simply providing supplemental oxygen doesn't solve this problem at all since you still need to get the oxygen into the lungs. Further, too much oxygen can be dangerous and actually suppress the drive to breathe in some cases.Assistive breathing devices, such as bimodal positive airway pressure (BiPAP) are much more effective and actually try to correct the problem by assisting the weakened diaphragm by providing a positive pressure pushing air into the lungs. BiPAP takes a bit of getting used to but working closely with a skilled respiratory therapist under the supervision of a physician should help. Once the patient is set up with appropriate and comfortable pressure settings and a good fitting mask or other interface, they should begin feeling better quickly.

Q: Why is it so important for our breathing to be tested lying down?When I was seeing Dr. Charlie Chan he told me that when I get my breathing checked for MIP and MEP I should have it done sitting and lying down. He stressed the horizontal position and told me that because I didn't have the benefit of gravity when lying down I'd breathe more shallowly and it was good for the docs to know that when lying down I took in and especially pushed out quite a bit less air (one litre less). I've told folks to be tested lying down as well as sitting up but their doctors just poopoo that mainly because it comes from me and I'm not a doctor. Could you please answer the question (Why be tested lying down as well as sitting?) or suggest that people with CMT have their breathing tested both sitting and lying down and tell us WHY so I can print it in the CMT Newsletter with your name on it and then, maybe, pulmonary specialists will listen. Mine did and it made a big difference in how he saw my breathing and sleep problems.

A: Dr. Carter -You and Dr. Chan are absolutely right. People with CMT and NMD in general should have MIP and MEP done sitting and lying down. The horizontal position puts your diaphragm at a disadvantage by removing the effects of gravity. When you are upright, gravity helps lower the diaphragm and fill your lungs with air. This is why people often have breathing problems at night, which can be helped by sleeping sitting up or propped up with pillows. The heart also has a harder time pumping when you are lying flat, which further compounds the problem.By checking your MIP and MEP lying down, your physician gets a better idea of how you might be breathing at night. A more extensive, expensive way of doing this is with a formal sleep study where they can observe you sleeping and check the amount of O2 in your blood, etc. Any physician who doesn't agree with this has forgotten basic physiology!

Q: to Dr. Carter: I have CMT breathing problems, my left diaphragm is not working very well and I get lower lobe pneumonia a lot. Why?A: - Please see my article on fatigue. Sounds like you are among the small percentage of CMT folks who get respiratory involvement. The diaphragm can be affected just like muscles in your arms and legs. (Linda Crabtree here - Also, if you cannot cough well and some of us lose our cough reflex, you cannot bring up the sputum associated with pneumonia and it can settle way down in the lower lobes of your lungs.)

Questions to Dr. Charles K.N. Chan, formerly a specialist in pulmonary and internal medicine in Toronto, Ontario, Canada. Dr. Chan has done quite a bit of research into CMT and breathing and published several papers on the subject.

Q: Can shoulder pain be associated with diaphragm problems in CMT?A: It is reasonable to say that any disease process that affects the proximity of the diaphragm can potentially create shoulder pain. In other words, pain actually occurred elsewhere in the body but was referred to some other parts of the body at the time you perceived it.My experience in dealing with people with established diaphragm problems is that they usually have a bit of pain, and this is usually more to the chest wall because of the overuse of the muscles, but whether they have frank pain to the shoulder is less likely but possible. The reason I say it is possible is because the muscles around both shoulders that are connected to the neck are often utilized when the patients' diaphragms are weak, but frequently it occurs in people with advanced diaphragm problems.In terms of early sign of diaphragm involvement I would recommend symptoms along the line of breathing difficulty or shortness of breath while lying down as the very first indication. This happens months or even years before more profound symptoms follow and usually transpires to shortness of breath on minimal exertion.

Q: I get a very tight feeling across my chest as if someone is pushing down on it really hard, then I find it hard to breathe properly. Also, I get sharp pains in my ribs. Would you please tell me if this could have anything to do with my diaphragm muscles and have you ever heard of this before?A: The tight feeling across the chest as described may be secondary to cardiac disease such as angina due to poor circulation to the heart. Alternatively, the sensation can sometimes be felt by asthma patients because of narrowing of the airways and thus making it difficult to breathe with a tight sensation. This tightness sensation with breathing difficulty and sharp pain in the ribs may also be secondary to muscle weakness.I would urge an assessment by a physician in regard to those three possibilities. An electrocardiogram to check the heart and lung function test, perhaps with some breathing muscles tests such as maximal inspiration and expiratory pressures may be done. After those evaluations, your physician will be in a better position to assess if it is related to the heart or the lungs.

Q: Are breathing problems common in people who have CMT?A: No, only in a small percentage of patients with severe CMT.

Q: What type of CMT is the most likely to have breathing problems connected with it?A: Patients with major CMT involvement of the upper arms and neck.

Q: How important is it for people to have their breathing checked if they think they have a breathing problem?A: They should at least have a consultation with a lung specialist.

Q: Can breathing problems in CMT be life threatening?A: Yes, in advanced cases, the patient may need a breathing machine.

Q: If you think you have breathing problems and are going to have an operation involving anesthetic, how important is it to have your breathing checked BEFORE the operation? How about having it checked lying down? What should the person checking your breathing be looking for?A: Definitely BEFORE surgery. They need to check vital capacity sitting and lying and look for major disparities. They also should be monitored closely after the operation.

Q: Most people look to you for information on CMT and breathing but not everyone can visit you for help. Are there other centres in North America where specialists such as yourself work with people who have CMT and breathing problems?A: I can think of none specifically, but any major university centers should have the know-how and up-to-date knowledge.

​​

NIGHTTIME VENTILATION Why a vent rather than a Bi-Pap?Remember that you can go on a ventilator without having a tracheostomy. The late Karen Roth of Texas used a ventilator and nasal mask to take over her breathing at night. She asked her pulmonary therapist, Richard Hodgkins some important questions that could save you from going on a vent requiring a tracheostomy if your doctor will read and heed. She writes: I recently had a visit with Richard Hodgkins, my breathing therapist (Richard custom-makes masks for patients who use Bi-Pap machines and vents to assist breathing). He has been with me since 1987 when I first was diagnosed as having breathing problems. At that time Richard was head pulmonary therapist at Dallas Rehab Center, where I happened to be a patient after being told the news.

Q: Why wasn't I put on a Bi-Pap unit after being told that I needed assistance in breathing?A: Because your muscles around the lungs were too weak for a Bi-Pap to do any good. You were past a Bi-Pap. The next thing to try was a portable vent with a nasal mask...no invasive measures. I used light, comfortable custom nasal masks I made myself and they were working.

Q: When is a Bi-Pap unit effective in patients with CMT?A: Bi-Pap is effective only in patients who have good chest wall mobility, and takes less pressure to achieve an effective volume.

Q: How does one know that he is not on the right breathing device?A: If he has to keep changing the numbers on his machine (higher) and, if he still feels tired the next day. The Bi-Pap can only do so much. That is when the vent comes to the rescue. Patients who are on the Bi-Pap will find that they are having to assist the machine to breathe. This tires and stresses the muscles, thus weakening the patient.

Q: Where can a patient obtain a comfortable, good sealing nasal mask if he can't find someone like Richard who makes them?A: Respironics makes a mask called the Golden Seal, that is new and effective. I put one on my ALS patient today. He's doing well. Also the Ultra Mirage made by RES-MED, is supposed to be comfortable and gets a good seal.

Q: Why are so many patients put on Bi-Pap and not even tried on a vent?A: It has been the thinking for years that vents were used as "the last straw." A patient using a vent was automatically trached. Doctors didn't want to be bothered to even try non-invasive means, such as the nasal masks. When I was at Dallas Rehab, our doctors wanted to stay away from trachs. With the vent and a good sealing mask, our patients did well.

RICHARD'S CONCLUSION:For people who are on Bi-Pap, be sure to set it so the machine will do ALL the breathing for you. If you can't get this effect, then you are beyond the machine's capabilities to assist you. In Karen's case, as I stated, her muscles were too weak for a Bi-Pap to do her any good. The machine just did not have the settings. The vent was the unit for her, and with a nasal non-invasive mask. If she weakens a little through the years, the vent is capable of still helping her, and yes, without the invasive means.

​Trial by CPAPby Margery Hankinson

Over the last couple of years, I have had problems breathing while sleeping, partly due to overweight and partly because my right diaphragm is paralyzed. I spent many months sleeping part or all of the night in my good old swivel rocker. I eventually learned to use a slant pillow to keep my head slightly elevated and was able to go back to sleeping in my bed. There were still nights when I ate too near to going to bed and had to head for the rocker.

In the next phase I started waking up with headaches. I found that if I breathed deeply several times they would go away. After a while I was awakening several times during the night with the headaches, doing the breathing, and going back to sleep.

The next phase was being tired all day and dozing off many times during the day. The scary part of this phase is the lack of concentration and the forgetfulness due to lack of sleep. I was now getting less exercise since I dragged through every day and added weight to an already overweight body.

On my yearly visit to the doctor for a blood test, I mentioned how bad things had gotten and the doctor suggested a sleep test. As Linda described it, you have wires attached all over you and then you attempt to sleep while you're being monitored. It's not painful, just awkward. Gary Prezkop, who ran my test at Geisinger Hospital, Wilkes-Barre, PA, explained everything beforehand and encouraged questions at any time. He assured me with his monitoring he would know if I was having problems, and if I needed him, I just had to say "Gary" or "hey you" and he'd be there. During the night I had to go to the bathroom, and sure enough, I barely got the words out before he was there. He released the wires from the bed and threw them over my shoulder so I could go. This really reassured me I was not alone.

The results of the test showed I definitely had sleep apnea. I stopped breathing 89 times in five hours of sleep and my oxygen level dropped from 90 to 70. Gary came in at this point and put me on oxygen so it would not go any lower.When I met with Dr. DelaRosa, the neurologist in charge of my test, he gave me three choices: first, the CPAP mask with oxygen at night; second, operating to remove the soft palate and cleaning the throat area; and third, doing a tracheotomy. Detesting operations as I do, there was no choice but the CPAP. I made a vow this was going to work!

The first step was back to the sleep clinic, only now he added a mask to all the wires. Again, everything was explained in detail and my husband and I watched a tape about the mask. All my life, I have had a fear of the unknown, and covering up your nose with a mask (it does have a hole to allow excess air out or air in) is a very scary feeling. To me the terror is greater than the suspense in a thriller when the murderer chases the victim. Gary was very reassuring and advised me not to think about breathing but to concentrate on going to sleep. Knowing that he was monitoring certainly helped ease my mind. [marg hankinson]

During the night he experimented with the pressure of the CPAP in order to determine how much pressure I needed. The big problem seemed to be with the chin strap that was to keep my mouth shut. It didn't do the job and my mouth dropped open and the pressure dropped. That time, however, I only quit breathing 39 times.

The doctor suggested a rental unit for a few months to be certain I could adjust. The salesman from the company came out with all the equipment and explained it in detail. He suggested it would probably take about a week to adjust. One of the nice things about the Healthdyne CPAP unit is that you can set the timer on the back in increments of 10 minutes. This gives you time to get to sleep before the full pressure comes on. It's a gentle pressure at first, so that you can acclimate yourself. It is also fairly quiet, like a fan on low.

Unfortunately, my husband was called out to work in New England and we were leaving in our RV for 10 days. Instead of a calm, serene setting for the first time without Gary's monitoring, I was faced with seven hours on the road, a broken water line and cold weather. It seemed I was really going to be put to the test!

My husband and I got everything together and the mask on. Then came the moment of terror again. No Gary in the next room monitoring. Fortunately, I had a husband who slept with a light on all night to monitor my breathing and to help ease my fears. I was especially grateful since he had to get up and go to work the next day. I feared that I wouldn't be able to get the mask off with my weak hands in the dark if I couldn't breathe.

Just about the time the pressure was to increase, the oxygen machine conked out. The salesman had had some problems when he was testing it but had thought everything was okay when he left. We had to proceed without the oxygen. Again, the chin strap did not do its job but I got over the terror and was able to sleep the rest of the night with the CPAP. More adjustments were necessary until it was the most comfortable for me.

After the second night with the mask, I started sneezing and my nose started to run constantly during the day. Even pills didn't touch it. It was all right at night when I slept, but as soon as I took the mask off, I would get the tickling in the nose, the sneezing, and the constantly running nose. My face became chapped and hurt a lot. It was intolerable!

When we returned, they brought out the new oxygen machine and it worked fine but the runny nose continued. The doctor suggested Afrin nose spray, first at night and then first thing in the morning. I was sent to a specialist who suggested I take Nasacort twice a day for a month, and if that didn't help, I would go back to the Contac when needed.

I finished up my month just as we arrived in California for a month's stay. I only took one Contac pill and never had any problems the rest of the month. Maybe it just takes time, for me, about three months.

I'm doing really well; I'm feeling more alive and I'm awake all day! It makes a big improvement to my life. It wasn't easy getting used to, especially the drippy nose and I still have that every now and then, but the CPAP really changed my life.​

Linda here - I'd known Karen Roth of Texas for years and asked her to tell me the story of how she got to be the dynamo in a wheelchair that she is. Karen died several years go. Here is her story:

I was three years old living in Waurika, Oklahoma, when I got the flu, and my right foot started turning in. My parents took me to Dallas to the Carroll Clinic. There had just been an outbreak of polio and that’s what they thought was wrong. They really didn’t know. My foot didn’t get much worse, but at the age of seven, I had tendon transplants done. In grade five, I noticed my right hand started getting a little weak.

I had played the piano since age four, and at 10 I noticed my right hand was weak as I played. Things levelled out, but each time I got the flu, I got worse, and I began to notice steps were beginning to be hard to climb.

In high school, I played tennis and basketball a little. I went on to Midwestern University in Wichita Falls, Texas, where I studied piano and voice. Things seemed to level out again. In my junior year, I had a bad case of the flu, fell down some steps and ended up in the hospital with a crushed foot. It was then I had an ankle fusion done on my right foot. It didn’t heal, and it had to be done again months later. In spite of all that, I entered graduate school, Texas Women’s University in Denton, Texas, to get my Master’s degree in music. School went well but the foot didn’t really heal. It never healed completely, and I began using a walker then because I couldn’t put all of my weight on it.

During my final year, I married a young man I had met back at Midwestern. I was going to sing at my own wedding but I had what I thought was a cold. We honeymooned in the Caribbean, and when we returned my voice was much worse. It was at that time that I was diagnosed with a paralysed vocal cord. That’s also when I thought my world came to an end because I loved to sing.

I got sick with the flu again and was sent to National Institutes of Health (NIH) in Bethesda, Maryland. They didn’t know what I had, so I came back after nine weeks there and set up housekeeping and got on with newly married life.

We moved to Plano, Texas, in 1968, and adopted two daughters, one in 1968 and one in 1973, and a third daughter much later in 1989.

In 1985, I was at the mall with my daughters, and there was a health fair going on. Just for fun, I took the breathing test they offered. They had a fit and told me I needed to go to the doctor immediately, my numbers were very low. I didn’t do anything, I felt great.

Now, I wonder if my having to go back to bed after getting the girls off to school was a sign that my breathing was bad, and I was experiencing fatigue.

Through Linda and CMT International, I found Dr. Charlie Chan in Toronto and went to see him. After all these years, he was the one who diagnosed me as having CMT, and he also told me that I had severe phrenic nerve involvement causing diaphragm weakness. He took me on a tour of the wards with people who had waited too long to get help for breathing problems. They were just sitting there with their breathing machines attached to them. It was awful. It really scared the hell out of me.

I came home, went to Dallas Rehab Institute and had more breathing tests done. The head of the pulmonary department said to me, “Karen, you want to live or die?” I stayed three or four weeks at DRI getting used to my PLV100 ventilator. It was awful at first. I didn’t have a good seal between my mask and face. There were many times I just wanted to give up. A dentist came in and made me a mask that hooked on to my mouth and my teeth, and it was awful, but I got through it and went home. I could only use it about three hours a night. I used to call it Darth Vader, I hated it so much.

Then, I went back to DRI for a checkup, and there was Richard, a new respiratory therapist. He said, “Karen, I think I can help you with your mask,” and oh, did he! He made me a customized mask to fit my face. It is very lightweight, has a good seal, is comfortable, and of course, the rest is history. I’ve done very well.

I use the machine every night with the mask Richard made me, and during the day, if I feel tired, I let it breathe for me about 10 times, and then I’m good late into the night. If it wasn’t for his mask and my machine, I don’t think I would be here today. It is my lifeline, I have energy and feel good most of the time. My vocal cord is no longer paralysed, and even though I now use an electric wheelchair, I’m able to sing in the Christ United Methodist Church Sanctuary Choir, which I love, and I’m still able to teach piano, harpsichord and voice.

Linda here - To find out the other side of treatment, Richard Hodgkins, Karen’s respiratory therapist who now works out of Silver Leaves Nursing Centre in Garland, Texas, spoke to me recently. [l] (Richard has since died)

“At the time I was at the Dallas Rehab Institute, the program I worked in was based around neuromuscular diseases. People have to understand that the level Karen was at then and is at now is one where daily activity is exercise. Breathing itself becomes exercise. In order to achieve a proper healthy stasis, we need adequate nutrition, appropriate exercise and effective rest. This can be accomplished by nocturnal ventilation where you knock out all muscle use.

“There are two ways to provide ventilation, either invasive which is a tracheostomy or noninvasive which is a mask attached to a ventilator.

“Once the body reaches the point where breathing is exercise the chronic stress stimulates a high metabolism. It is like a long distance runner that gets no rest. You are always under chronic physical stress.

“You have to institute a phase of rest to extend life expectancy. Karen had difficulty singing and was experiencing difficulty with her quality of life. If done properly energy levels may improve.“I learned from Dr. Viroslav and Sue Sorter of the Dallas Rehab Institute.

“The effect of the mask places the air directly into the nostrils and I make sure there is an anatomically correct surface area over and around the nose which ensures air going directly into the nostrils rather than blowing air at the nose hoping it goes in the nostrils.

“The mask is made out of silicone impression material. It is what a dentist would use to make impressions of the teeth.

“Karen originally has been on an oral/nasal mask because she was leaking air out of the mouth. On her second evaluation, we found that with the new type of nasal mask and her improved strength, due to her time on ventilation, we might be able to use just nasal ventilation for comfort and improved patient compliance. When you get down to three hours a night, you aren’t really using it; we had to find something Karen would and could use. It turned out that the nasal mask worked fine for her. The machine attached to the mask eliminates the use of the respiratory muscles completely giving her effective rest so she has improved energy during the day.

“To improve or ensure effective ventilation, you should have good chest wall mobility. If the chest is stiff from shallow or little movement, it resists air movement and it takes great pressure to put air into the lungs. A mask works best at low pressures, so a program of chest stretching can be effective to add mobility and reduce ventilating pressures. This is achieved with IPPV, intermittent positive pressure ventilation breathing, a machine used by mouthpiece set at a pressure prescribed by a physician, usually 40 centimetres of water pressure. This mechanically stretches the chest and should be done daily.

Another way of visualizing this would be if you had your arm in a sling. When you take the sling off, the arm is stiff. A physiotherapist would have to slowly stretch that arm out. The same works with the cartilage and muscles of the chest. The constant and consistent application of pressure gradually adds mobility to the chest wall. The effectiveness of the mask is improved with the mobility of the chest. Karen practises a daily regimen of chest wall mobility to keep her chest walls flexible.

“Anyone with neuromuscular disease should be careful how much activity they experience daily. It isn’t your lungs, it is the muscles you use to breathe and the energy you expend to breathe. That’s the problem. Remember, daily activity is exercise and breathing is exercise.

“It is difficult to recognize the benefit of ventilation and providing rest and breaking the cycle of chronic stress but it is very important that it be recognized.

“If you experience chronic fatigue with your CMT and feel you have breathing problems, try to identify if breathing itself is a burden. Relieving that burden periodically through nocturnal ventilation which gives your breathing muscles total rest may see you begin to thrive.”

CMT information online, connecting to people with CMT

There is an excellent Facebook page https://www.facebook.com/groups/cmtus/ that has more than 5000 people with CMT on it.

CMT Canada is for Canadians to discuss questions specific to Canadian healthcare: https://www.facebook.com/groups/CMTCanada

Websites www.cmtausa.org and www.hnf.org are both for organizations that work with people who have CMT and promote research.

Children/youth

Anesthetics and Children

Linda here - I'm not a doctor, I'm not even a parent, but I can tell you that the worst times I've experienced have been when we've been notified that a young child with CMT - misdiagnosed as asthma - has died because their breathing was affected by CMT while undergoing what should have been a routine childhood operation for tonsils or an ear problem. The child subsequently developed pneumonia because he or she couldn't cough up the phlegm in the lungs from the anesthetics. Several have died.

If, before an operation, a doctor knows that a child has impaired breathing and communicates with the anesthetist, the anesthetist can prepare himself and staff to not only monitor the child well during the procedure but keep him warm during the operation so he doesn't use all his energy trying to keep his body warm. This means the child will have more energy to breathe and get well immediately after the operation.

There are some anesthetics that are "iffy" when the person has CMT and it is advised that the anesthetist order the staff taking care of the child after the operation to make sure the child does what is called efficient "toileting" which means throwing up and coughing up the residue from the anesthetics. It is much better to get rid of it than to not.

If your child has been diagnosed as having asthma, just to be sure it is asthma and not the phrenic nerve that serves the diaphragm muscles that make the lungs work that is making the child short of breath, have your child checked for phrenic nerve involvement. This can be done by any doctor specializing in lung diseases. The problem seems to begin with the physicians who are not aware that CMT can affect breathing. So a child has phrenic nerve involvement and diaphragm muscles that don't work very well, thus not allowing him or her to easily cough up phlegm resulting from a cough or anesthetic. A child can also have asthma and phrenic nerve involvement, this is not uncommon.

Career choice is importantby Susan Salzberg, OT

Employment is a personal decision. For some, job choice is based on the "best way to make money to pay the bills" with the major focus of fulfilment being family, hobbies and/or circle of friends. For others, all aspects of life revolve around the job with few outside interests. Most of us fall somewhere in-between.

We may picture ourselves in various careers from early childhood and usually choose a career by our mid 20s. Once we assume the responsibilities of adulthood, it is difficult to switch careers as to do so usually requires additional training and a period of unemployment/lost wages. While there is no right or wrong career for a person with CMT, there is a range of poorer or better choices. Logic tells us that careers which require standing, balance, long periods of time on our feet or much physical stamina are probably poorer choices. The more severe our symptoms, the more selective we must be.

Our career ambitions are heavily influenced by our self-concept and who we would like to be (or become). My daughter at age five wants to be a bride. My son at age nine announced that he would save us a mint in college tuition by becoming a professional wrestler. Two years later, he decided that he would go to Harvard, become a lawyer and make his first million before he turned 23. I remember wanting to be a cowgirl at age seven and a biochemist at age 14 -- prior to not doing well in high school chemistry. I became an occupational therapist (which has nothing to do with job counselling) and have worked in a hospital helping to rehabilitate physically disabled people for the past 11 years. This has been a good career choice for me, although I know of another occupational therapist with CMT who had to retire on disability.

In recent publications, I have read about people with CMT who are successfully pursuing such diverse careers as clergyman, mime, physician and master chef. The career choices of people with CMT are obviously more heavily influenced by interests and specific talents than they are by our highly variable diagnosis. Although most of us were undiagnosed at the time we made our career choices, we had a rudimentary feeling of who we were and what we did well. But we did not plan for the unpredictable decline of function from our CMT. If we chose careers with good job security and fringe benefits and/or not many physical requirements, we did better.

When I was asked to make a list of 30-40 "occupations suitable for a person with CMT..." I found it much easier to think of unsuitable occupations -- like cowgirl, acrobat or professional wrestler. As an adult who has "made it" in the competitive work force, what career advice do I have for those who follow? There are obvious practical trends, as mentioned above. The more physical the job, the more unsuitable it would tend to be. Favor using your brains over your brawn. Job security and fringe benefits (sick leave, health insurance, disability insurance and retirement pension) are considerations that may be more important for folks with CMT. There is enough diversity in the employment world to satisfy everyone's interests (although most of us would like to be paid more for whatever it is we do)!

If your interests and talents lean towards office work, there are many possibilities: typist, computer operator, transcriptionist, receptionist, secretary or a combination. In the right job setting, you can be an engineer, research scientist, architect, lab technician, statistician, lawyer or physician. If you have the talent, you could be an artist (loss of finger dexterity might force you to switch mediums, compromise, etc.), author (you could dictate if you can no longer type) or interior decorator (steps might pose a problem here). If you enjoy working with people, you might become a social worker, guidance counsellor or psychologist. If you are in a career which has become "too physical", think about returning to school to learn how to teach your career to others -- become a professor. Low-level sedentary jobs (such as factory work) may become obsolete as robotics become more sophisticated. But there may be specific jobs in your location.

What is your thinking/learning style? Are you more artistic than analytic? Do you enjoy working with others or would you rather work alone? Are you a self-starter or do you want to be told what your responsibility is and stick to that job? Do you like more or less responsibility? Are you effective and comfortable supervising others? What special talents or interests do you have? Are you impatient and exacting or more laid back? Can you accept deficiencies in yourself and others? A vocational counsellor can professionally evaluate your interests and talents and help you explore realistic career possibilities.

In the U.S.A., disabled people with potential employment ability (age 16 to "retirement age") are eligible for free, professional employment counselling through the Division of Vocational Rehabilitation. There are often funds available for retraining as the government would rather have an employed, taxpaying citizen than someone collecting disability. This program is administered at the county level in each state. Information on whom to contact in your state can be obtained from the Rehabilitation Services Administration, Washington DC 20202. In Canada look in the provincial government blue pages of your telephone book under Vocational Rehabilitation.

(Written June 1989)

​The Choice to Remain Childfree

by S. Clark, U.S.A.

I'm so glad you are giving CMT people who have chosen to remain "childfree" the opportunity to express our views and share our experiences on this subject.

Growing up afflicted with CMT, coping with numerous painful physical problems and limitations, as well as observing the lifelong suffering of so many CMT-affected relatives (my mother, her father, my sister, aunts, cousins and others), I realized early in life that my physical energies and capabilities were not high and that CMT had very negatively impacted my entire family.

By the time I'd reached my teens, I learned that CMT was a genetic condition. None of my female CMT relatives had ever been given this vital information, so they were unaware of the genetic component prior to having children. I, however, was lucky to grow up in a more medically sophisticated era. This knowledge brought with it an increased sense of responsibility. Since the genetic rate of transmission in our family was almost 100%, the probability was high that my children would have CMT.

When I seriously considered the physical, emotional and psychological suffering this condition had caused me and family members, I knew it was impossible for me, personally, to justify burdening a child with CMT. I felt it was better to spare a child these heartbreaking problems. Therefore, in my early 20s, I chose to have a tubal ligation. I can honestly say it's the best decision I ever made and I've never regretted it for one moment.

I've been blessed with parents who supported my decision completely, although I realize this is not the case in most families. Unfortunately, I encountered harassment from a number of so-called "medical professionals" because of it. Whenever I listed "tubal ligation" on routine medical histories, I was insulted, interrogated and treated like a "social misfit" by physicians. On one occasion, I discovered extremely damaging remarks written about me in my records. I vividly recall one young doctor (female) who, when told about my tubal ligation, looked at me in utter astonishment and said, "You did THAT just because of CMT?" I tried to explain my decision but she didn't want to listen. Quite typical of the sort of ignorance I've encountered. So, I stopped sharing this legitimate medical information with doctors to avoid further biased judgments.

As a childfree adult now in my 30s, I've experienced society's "pro child" bias in its many forms. The idea seems to be that "we must all have children" no matter what the cost or consequences to ourselves or the child. In general, childfree adults, with or without CMT, who are fulfilled, productive and very happy with their life choices, are often misunderstood and criticized by other people. This unfair, one-sided attitude exists everywhere, including the workplace. When I was in the workforce, I noticed that my employer would often grant "time off" to employees who were attending to children's problems while piling the work onto those of us without kids (after all, people without children don't have lives, problems or responsibilities outside of work, right?). Extra piled-on work simply meant extra exhaustion for me at the end of a busy day.

Remaining "childfree by choice" is tremendously stigmatized by society, while having children has come to be a sort of "social prestige" badge of honour here in the U.S. Because of that stigma, and the relentless social pressure to have children, CMT women and men truly need to be supportive of each other, to listen to their own inner needs. It really helps to join a support group such as the Childfree Network based in the U.S. (with members in Canada also) which gives a voice to those of us without children and encourages the idea that we have a legitimate right to make this choice.

I feel strongly that family members should never pressure anyone to have children nor should they refer to childfree people as "selfish." I'd like to receive the same measure of respect for my choice as people who have opted to have children routinely receive for theirs. CMT people, especially, need to be honest with their spouse, family and friends regarding this issue.

Finally, it is important to remember that those of us without children are not childLESS; we are not "less" as people, and we should seize this unique opportunity to contribute our time and energy in fulfilling, creative, important ways to family, friends and the community.

CMT and Sexualityby Simone Blajan-Marcus, MD

Simone Blajan Marcus is a retired French psychiatrist who has CMT and is active with CMT International France

Sexuality is indeed a delicate subject but our times allow us to face any kind of problem with honesty. This problem concerns all of us as we know now that sexual drives exist from early childhood and do not become extinct with old age but differ in quantity and quality.

1) In childhood, sexual drives are not precise. Children are often unaware of what is going on inside of them, at least, they cannot easily express them. Of course, sexual excitement is easier to observe on a baby boy as the organs are exterior. I remember seeing a golden jet of urine, in a sea resort, coming from a baby who had just had his bottle. It went up like a fountain obviously from an erected penis. I have heard from a colleague that a mother came to her for consultation because her baby was "abnormal." She had observed the erection but not understood that it was perfectly normal.

Young children often express their sexual drives deviously through a more than usual expense of energy or a greater sense of competition, in sport or anything else. Girls will want to imitate their mothers, boys, their fathers, in most cases. But parents should not be concerned because their five-year-old "wants to marry" a person of the same sex. It is very banal and need not alarm adults.

What about CMT children? Their mobility being impaired, they have a tendency either to mature intellectually earlier than average or to withdraw or even to become cranky, cry-baby or fussy. In most cases, the best thing is to talk gently with them and help them express their frustration. "Nobody wants to play with me" or "I am not popular," should not be denied (it may be true) but worked out with the child. He has to understand he can change something in the situation which does not mean it is all "his fault" of course. Kids are prone to be cruel with each other as well as helpful. Ignorance is the worst element in misunderstanding. Tell your child the truth about CMT, kindly, tactfully, but clearly. If he or she asks questions, do not hesitate either to answer them or to tell the child you do not know and direct him to a competent person. Things will be much easier after that.

2) Adolescence is a capital moment for the personality. Sex is everywhere with teenagers and nowhere. They seem to run after something they cannot define and they run hard! It can be summed up by a 15-year-old girl who came to see me because she did not work well in class. She was rather inarticulate until she exclaimed, "I wish, I wish, I wish!..." Yes, she was all wish, a passionate quest for love, and most probably sex, but the latter was not even formulated clearly inside of her.

Of course, CMT is a big handicap at any age when boys and girls are terribly sensitive of their looks, especially girls (or they take the opposite attitude, they do not wash and eat like pigs, as a defiance). Add pimples, acne, to an awkwardness that is increased by CMT and it may go from bad to worse. In another issue of this newsletter, I answered questions by a mother of three girls in their teens who all had CMT, including the mother. It was anything but easy for all! But, even then, problems can be alleviated if not cured. A person from outside who has some credibility in the mind of youngsters can undramatize the relationship. Needless to say, humour is the best remedy but it requires a certain distancing from the problem and that is not always possible.

3) With adults, the problems become at the same time easier and more acute. Easier, as adults can, more than young people, say what they feel, be more straightforward, less self-conscious. The sexual drives are more precise, more imperious. The need to have a family, babies, a spouse, is more urgent. A woman can have babies ideally only between the ages of 18 and 40. At least, that seems to be the best time. Twenty-two years is not much time if we consider that a CMT woman cannot dance, sometimes not even walk, and for a man, the main problem is to find work that will pay enough for a family. As more and more women work and are independent, the same difficulty arises for them. So sexual satisfaction is more difficult to accomplish with CMT.

Moreover, the sexual act itself is often a problem. Most people with CMT have the usual weakness in the legs but no numbness of the genitalia. But that can happen. Personally, I know a woman who lost her clitoral sensitivity at least a year before the other symptoms of the illness were declared. So, she did not make the connection and, being rather secretive, did not even discuss it with her husband. It was only much later when an intelligent neurologist asked her about her sexual activities that she realized it was not "psychosomatic." Also, people with CMT are prone to painful cramps in the thighs, the legs, and the wrists. That does not help, either.

The remedy is LOVE. If the partners love each other, desire each other, they will find the best positions, the best moment and accept to interrupt or abstain if too painful for them. I do not know that CMT softens erotic sensations; this might be interesting to elaborate with the testimony of several people, but I tend to believe that the loss or diminishing of the libido is more due to the psychological effects of the syndrome than the illness itself. It is easy to take refuge behind a handicap or a disease, as one tends, in spite of the large inconveniences, to "protect" one's symptoms. It is like age: a too easy alibi against fighting or elaborating one's "defects."

4) Old age is yet another difficulty. The question arises again and again. What can be attributed to one, what to the other? Not that it makes a lot of difference. They both are "incurable," but they both can be retarded, alleviated, and many side effects of them cured. Of course, there is no such thing as "all there is to do is..." Aging is a partially genetic process, like most CMT, but we also know that the life span of human beings (and also pets) has been considerably lengthened. Actually, a woman averages 79 1/4 while men stagnate at 72...tobacco, alcohol, physical risks are certainly a factor. But one thing is longevity, the other is aging. A person can live 90 years and more and have a good memory, be very attentive, and read without glasses. Another can become wrinkled at 45, dependent at 60, and deaf at 65. And some people age because of their psychological condition. Depression makes a person age more quickly than someone who keeps his or her sense of humour.

Developmental issues and Charcot-Marie-Toothby Susan Salzberg OT

Although CMT is a lifelong issue, it impacts us in different ways throughout our life span.Erik Erikson was the first popular psychologist to talk about life in terms of "tasks to be accomplished" in order to successfully pass on to the next stage. Though we all pass through the same stages of life, the variables of our bio-psycho-social being make the journey unique for each of us. [Susan Salzberg]

The Impact of CMT on Each Stage of Life

Infancy: CMT is usually not obvious during infancy, although if it is known to run in the family a close observer might notice early signs. The true impact of CMT at this stage is from parental feelings of "passing on" a trait which is less than desirable. If parents have not come to terms with their own CMT and feel guilty or depressed, interaction with their infant may be affected. First born children, especially if they are "only" or late-life children, tend to be scrutinized by their parents - with all deficits and accomplishments magnified and ruminated on. Erikson's life task at this stage is for the infant to develop trust in his parents and in the world around him - something that happens when unconditional love is given and received. What can a parent do during this stage? Ignore the possibility of CMT, enjoy your baby and have your third child first!Toddler Stage: During this stage our children accomplish their motor milestones: they learn to walk, control their bowels and bladder and handle simple utensils and toys. Some children begin to show signs of CMT at this stage - being slower to walk and/or walking clumsily.

Erikson's life task at this stage is to overcome shame and doubt and to develop a sense of autonomy or "control" over one's body. It is the parent who gives the child a sense of autonomy by praising efforts and successes - this is the beginning of self-esteem. If the parent feels shame about motor clumsiness or doubts about the child's abilities, this feeling is picked up by the child.

What can a parent do? If your toddler's CMT is severe (this would be unusual but not unheard of) therapy from a physiotherapist and/or occupational therapist with a specialization in pediatrics might prove helpful for improving strength and/or normal motor patterns. For most parents, it will be enough to enjoy your child. Keep in mind that having a toddler who is the youngest on the block to get teeth, stay dry, walk, talk or use a spoon does not put you in line for the Blue Ribbon of Parenting award. Each child develops at his own pace, in his own way. And each child needs parents who can accept and encourage him.

Childhood: During early and late childhood our kids are busy learning about themselves and the world around them - from us, from school and from their peers. Their ability to think and reason changes as they grow. During Early Childhood (approximately ages 3-6) their thought processes are concrete: they think in terms of the present and what they can actually see. As they mature their mental capacity allows them to think more abstractly. By Late Childhood (ages 7-12) they can imagine the future, think of different possibilities and appreciate logical consequences.

Children might begin to be aware of their CMT during this phase of their growth. This is the stage when Erikson's life tasks are learning "initiative" and "industry." If our children become afraid to take chances because of repeated physical failures and/or peer teasing, they may have feelings of what Erikson called "guilt" or "inferiority." If their sense of discovery, adventure and willingness to try something new is thwarted by feelings of failure, they may enter adolescence with an inferiority complex and feel guilty for "not trying harder."

As parents we must love our children unconditionally for who they are. This will suffice for the Infancy and Toddler stages of development. During the Childhood stages we must help our children discover their best selves. I believe we can do this by: 1) keeping the communication lines open and truthful; 2 ) helping our children find their niche; encouraging them to do well in all their life tasks and providing extra praise for what they do best; and 3) maintaining "perspective" and a sense of humor. As they leave the Childhood stages, our children should feel competent about their ability to cope with life and should feel they are keeping up with their peers within their capacity.

Puberty: A tricky time of life at best, adolescence is the stage most "adult survivors" (with or without CMT) report being their most difficult. Our children are their most vulnerable and self-conscious at this stage - scrutinizing every thought and action, wanting to appear like everyone else (to "fit in") but wanting at the same time to be admired for being their own unique selves.

Erikson's task during this phase is to form an identity. Our children need to maintain a positive self-image. They need to feel confident in their ability to interact and make their way in the world. Rebellion is a way of testing limits and many adolescents discover their limits by engaging in unsafe, unrealistic or unacceptable behavior. Even if our children acknowledged their CMT in the past, they may seem to deny it during this stage by their choice of physical activity or career. Adolescents tend to feel invincible, immortal and omnipotent - they may be risk takers who feel nothing can stand in their way. This powerful feeling does not compute with having a potentially limiting neurological condition.

As parents, we may recall our own adolescence as the time no pair of shoes fit right, when we were shamed in gym class or in the showers afterwards, when we felt clumsy, puny and vulnerable (and put on a show of bravado or risk taking behavior to avoid our true feelings or make up for our perceived deficiencies). We may hope to give our own children a calmer and less painful adolescence. The communication lines, sense of humor and perspective established during childhood are very important during adolescence. So is an open mind. But the truth of the matter is that forging an identity cannot always be done under the umbrella of parental guidance.

Young Adulthood: At some point after high school, in their early to mid 20s, our adolescents turn into "young adults." We think of young adults as being self-sufficient. Although environmental factors and family values will influence lifestyle, most young adults live away from home and are gainfully employed. Many have started their own families.

Career and mating choices are issues that emerge during this phase. Erikson's life task is "intimacy vs isolation." To become a functional partner in an intimate relationship requires having a positive sense of self, i.e. knowing who you are and liking yourself. From the number of failed marriages we witness, it can be said that this stage is difficult for all young adults, not just for those with CMT.

Choosing a career can be just as tricky as choosing a mate, especially when weighing and balancing the anticipated effects of a progressive neuropathy. Prior to the stage of "Early Adulthood" we focused on the psycho-social aspects of CMT. At some point during the adult years the biological aspects of CMT come to the forefront - foot drop, decreasing stamina, hand weakness, poorer balance. Any combination of these symptoms may necessitate giving up a "dream career." If they become problematic later in adulthood they may necessitate changing careers. It is difficult to plan ahead if you do not know how your neuropathy will progress. Can you plan for the worst and hope for the best?

As parents, what can we do? "Young Adults" are our children only in the biological sense. While they may use us as sounding boards, they are following their own paths and doing their own thing. We can listen to their plans, validate their feelings and support them as much as we are able. We can live our own lives fully and with meaning and hope our example can be appreciated by our children.

(Editor's Note: Susan Salzberg is the mother of two children, a son with CMT and a daughter without CMT. Susan feels she is somewhere between mid-adulthood and old age and is struggling with the issues of those periods. She works as an occupational therapist in North Carolina.)

​

​​Dentistry

Jaw weaknessby Linda Crabtree

Some of us with CMT have facial muscle loss and experience problems trying to keep our mouths open for long periods during dental work. If you notice muscle wasting in the jaw hinge area, you may be losing bone mass and muscle in that area. A total jaw scan will tell your doctor or dentist if this is happening. Numbness in the face can also be part of CMT. Deterioration of your jaw muscles can lead to difficulty chewing, a hard time keeping your mouth open for dental work and you might find you dislocate your jaw yawning. Make sure your dentist looks for pits in your teeth (these are not cavities) if you are losing muscle and bone mass in your jaw area.

Having enough spit is also important to keep the acid (pH) level normal in your mouth. If you have a dry mouth this is not part of CMT but it can be part of aging. You may need a special rinse and calcium builders for your teeth.

Some people with CMT have jaw muscle spasms. This makes dental work difficult and painful. If you have jaw muscle spasms work with your doctor and dentist to see if they can be alleviated before you have dental work done. Sometimes a misaligned jaw caused by weak muscles can cause jaw muscle spasms.

Reactions to epinephrine in freezingby Linda Crabtree

Believe it or not, some people have confused Charcot-Marie-Tooth disease with a problem with the teeth. It is not. Dr. Howard Tooth was a British physician who worked on identifying CMT the same time as Drs. Charcot and Marie so his name was added to the name of the disease.

Some of us do have problems with dentistry though mainly because we may not feel pain the same as everyone else (we may feel it more or less) or we have adverse reactions to the ingredients of dental freezing.

I'll quote the word of Dr. Daniel Haas, DDS, PhD, Assoc. Prof. Faculty of Dentistry (Dept. Of Anaesthesia) and Faculty of Medicine (Dept. Of Pharmacology) at the University of Toronto, Ontario, Canada - "Local anesthetic: Novocain is the trade name for the original synthetic local anesthetic, which at one time was commonly used. Over the past few decades, related drugs have been introduced which are slightly more effective with a lower chance of allergy. Due to their superior qualities, it is now rare to actually get true Novocain for local anesthesia for dentistry. You are much more likely to get a drug such as Xylocaine, Citanest or Carbocaine, to name only a few."

When asked if people with CMT are more predisposed to problems regarding anesthetics than the general population, Dr. Haas said there is no scientific evidence of this because the hypothesis has never been tested.

Epinephrine - "When you receive an injection of local anesthetic for dentistry there is a very good chance that epinephrine is included. Epinephrine is the same as adrenaline, the naturalhormone that is released during "fight or flight" scenarios. It can induce a great number of actions to help prepare the body for stressful situations. One of its affects is to make the heart beat more quickly.

Epinephrine is included in many local anesthetics as it constricts the blood vessels which, in turn, keeps local anesthetic at the site, making it work more profoundly and for a longer time. It is for that reason that it is used. Usually, no side effects are noticed. Some patients, however, may feel its effects if some of the epinephrine is absorbed directly into the bloodstream or if they are particularly sensitive. The side effects may manifest as a racing heart, palpitations, or dizziness. These same symptoms may occur when anxiety about the injection ensues, because the anxious patient will release natural adrenaline.

If you are one of the people who appears to react strongly to epinephrine, there are local anesthetics without it. They go by the trade names of Polocaine, Carbocaine, Isocaine or Citanest. These same trade names can also have epinephrine or epinephrine-like compound so you have to specify Polocaine-plain, Carbocaine-plain etc. to be certain. One drawback of these plain anesthetics is that they re short-acting, particularly when used in the upper jaw. Therefore you may need more than one injection. In the lower jaw, they are only slightly shorter-acting than the local anesthetics with epinephrine.

Amitriptyline - Tell your dentist if you are on Amitriptyline and if you are worried about the side-effects of freezing with epinephrine in it. Amitriptyline works on some of the same nerve cells as does epinephrine. This results in some patients who take Amitriptyline being susceptible to epinephrine side effects. Although epinephrine can be used, it is usually recommended that high doses be avoided. Therefore the patient on Amitriptyline can still have the benefits of epinephrine in local anesthetic; they just should not have too many injections at the same appointment. Another alternative is to have one of the local anesthetics without epinephrine.

Dental aidsby Linda Crabtree

Some people with CMT have trouble holding a toothbrush. Look around the WWW. There are many devices that will hold the toothbrush for you and just slip over your hand - no grip is needed. There are also devices to hold dental floss, dispense toothpaste and even squeeze the tube for you.

Flossing is easy of you just wrap a long piece of floss around your index fingers. Make it three feet long if you have to. The lack of pinch between index finger and thumb can be made up by simply wrapping the floss on your index fingers and then flossing. Floss can be rinsed and reused of you really don't like throwing out three feet of it every day. The idea with flossing is to simply disturb any plaque between your teeth. When you disturb it, it doesn't harden. Sure, it is good to get rid of as much of it as you can but that's what appointments to have your teeth scaled are for. You do the best you can and your dental hygienist does the rest. Don't forget to brush your tongue as well.

Some people with CMT use an electric toothbrush and just love it. You don't need strong hands or strong wrists to hold an electric tooth brush and they are getting smaller and lighter all the time. Just make sure that the one you select is easy for you to turn on and keep on and turn off. You shouldn't have to have your finger on the "on" switch all the time. Weak hands or not, there is no excuse for not brushing or flossing you teeth.

Talk to your dentist if he suggests a dental bridge to take the place of extracted teeth bridge. Because of weak hand and a loss of finger dexterity you may not be able to get the bridge in and out of your mouth. Most dentists can figure out a way for the bridge to be easy to slip in and out. Don't be afraid to speak up.

Diagnosing

Introductionby Linda Crabtree

Many of us find out we have Charcot-Marie-Tooth disease after a child or relative has been diagnosed, or are diagnosed when we go to a doctor for something else. Although many doctors do not know CMT as such, they do know that something is wrong when they see the thin legs, high arches and footdrop connected to a slapping walk. From that inkling that something is wrong, we are usually sent to a neurologist who takes a family history and then does an electromyogram (EMG) and/or suggests blood tests which are available for several of the many types of CMT. (Update: Some 90 types of CMT have been described and blood tests are available for many. - L.C. - 2017)

Because there isn't information in every doctor's office about CMT and because s/he may have studied it for an hour along with 40 or 50 other neurological disorders, he won't be able to sit down with you and tell you about it. And, this may be a good thing.

The word "progressive" can, indeed, by very frightening. How progressive is usually the question asked but it is a question that cannot be easily answered because we are all different and our CMT is different as it affects us as individuals. One person might only have high arches and never go beyond that while another might begin with high arches, develop cocked toes, sprain an ankle often, develop footdrop, notice atrophy in the hands and even develop breathing difficulties. There is no real set pattern for CMT, and people whom doctors have told would be in a wheelchair continue to walk or play the piano, and those whom you might think would carry on suddenly find themselves bad enough to want to retire.

Research is constantly telling us all kinds of things about CMT, and the fact that thousands of people with CMT have come forward to be part of organizations around the world working with CMT means that we have first-hand knowledge about our disorder, usually more than most doctors.

Beware of any doctor who tells you that you will be in a wheelchair within two years or that you won't be able to work. He has no way of knowing these things and our readers have told us time and time again that their CMT has changed their lives, yes, but sometimes it is for the better. In most cases it teaches us to be kinder and gentler to ourselves, not to push so hard, and to watch for things we are doing to ourselves to make our CMT worse…things like pushing ourselves to exercise, to work long hours when we are exhausted, to continue in a stressful relationship. We've learned that we last longer if we truly learn to look after ourselves. We can do this by reading everything we can on CMT.

We want you to be able to think straight after your diagnosis and cope as well as possible with your CMT and the CMT that could be in your family.

A new test for CMT and a bit of history (2001)by Susan Ulisse, Athena Diagnostics Marketing Assistant

Athena Diagnostics offered our first CMT test in 1993. Since then, collaboration with academic and clinical researchers has allowed Athena to develop and commercialize a comprehensive range of genetic test for CMT, including testing for the PMP22, EGR2, MPZ, and Connexin32 genes. Continuing in this tradition, we are pleased to announce the recent development of testing services for the neurofilament-light gene (NF-L) involved in Charcot-Marie-Tooth disease type 2 (CMT2). A variety of disease-causing mutations in the NF-L gene are associated with this axonal form of CMT. To provide a more accurate diagnosis, Athena sequences the entire coding region of the NF-L gene in order to detect these mutations.1

Historically, Charcot-Marie-Tooth disease has been divided into two subcategories: CMT type 1 (CMT1) and CMT type 2 (CMT2) on the basis of nerve conduction velocities (NCV). CMT1 is typically the demyelinating form of the disease and is characterized by a considerable decrease in motor and sensory NCVs, with an upper limit of 38 m/s for the motor NCV of the median nerve.2 By contrast, CMT2 is an axonal peripheral neuropathy and is characterized by an NCV that is only slightly decreased (>38 m/s) or even normal.2

CMT2 is usually inherited in an autosomal dominant fashion (meaning there is a 50% chance that the children of an individual with a CMT mutation will be affected with the disorder). NF-L is the first gene discovered in CMT2. A missense mutation (a mutation that causes substitution of one amino acid for another, resulting in a different sequence) in the NF-L gene (NEFL) on chromosome 8p21 is linked to the disease.3 The NF-L gene encodes neurofilament light protein, which is one of the three major neurofilament proteins constituents. Neurofilaments play an important role in axonal structure.

Two leading CMT research groups studied families with CMT2 caused by neurofilament light gene mutation. These families demonstrated the clinical presentation and genotype of CMT2. In the first study, Irina V. Mersiyanova et al., suggest that Gln333Pro represents a rare disease-causing mutation, which results in the CMT2 phenotype.4 Vincent Timmerman, PhD, Peter De Jonghe, MD, PhD et al. identified a novel mutation, Pro8Arg, in a second CMT family.5

Because of overlapping clinical symptoms with other inherited peripheral neuropathies, CMT may be challenging to diagnose clinically, and CMT2 may be difficult to distinguish from other forms of CMT, such as CMT1, CMTX, and chronic idiopathic axonal neuropathy.6 A genetic test can help clarify a clinical diagnosis and provide the most accurate information about an individual's CMT type, which may help in assigning risks for developing the disease or passing on the abnormal gene to family members, enable appropriate genetic counseling, and lead to better disease management.

I was diagnosed with CMT at the age of 35. Having had symptoms all my life, they became a problem at this age. I had an EMG and many blood and urine tests before the diagnosis was reached. I never did have a muscle biopsy even though I did not have a family history available. DNA testing was not available at the time and would have been useless if it had been because I have CMT type II.

When you visit your doctor with your medical complaints related to CMT, usually you will be referred to a neurologist. The common complaints are numbness, pins and needles (in a stocking and glove pattern), frequent tripping, ankle sprains and loss of balance.

Medical history The neurologist will do your medical history, paying particular attention to your family history if it is available. Family members, who have similar symptoms to yours, may be asked to come in as well.

Physical examinationThen, you will be examined. The neurologist will pay particular attention to how you walk, whether you have high arches and other foot or hand deformities and whether your hands and/or legs are thin compared to the rest of your body. Your skin will be pricked very lightly with a pin, up and down your legs and arms, to determine if you feel the touch as sharp, dull or not at all. A piece of cotton or tissue may be used in the same way as the pin to find out if you feel soft touch. A tuning fork that is vibrating will be used on specific bony prominences (your elbows, wrists, hips, the outside of your knees, ankles, fingers and toes) and you will be asked if you feel the vibration, when it starts and when it stops.

Reflexes Your reflexes will be tested: feet tested with a dull object that is run from your heels up the middle of the soles of your feet and across the balls of your feet quickly (the Plantar or Babinski sign); ankles (achilles), knees (patellar), wrists (brachioradialis), elbows (biceps) are tested with a reflex hammer; and abdomen (abdominal) tested by running an object quickly and lightly across the skin of your abdomen. These tests are done to find out if your reflexes are normal. The Plantar or Babinski reflex causes your toes to automatically curl if it is normal. It is only abnormal when the brain or spinal cord are involved, so the results of testing this reflex are important in the diagnosis of CMT to rule out diseases in the brain.In CMT type I, the ankle, knee, wrist, elbow reflexes are often absent; in CMT type II, the reflexes are sometimes slow but usually not absent.

ProprioceptionYou will have your toes and fingers moved up and down by the doctor, while your eyes are closed, to find out if you know which direction they are being moved. This tests for problems with balance and knowing where your body parts are without looking at them. Another test of your sense of orientation in space is standing with your feet right together and eyes closed. If you automatically sway or fall more than you do with your eyes open, then Romberg's sign is positive, which means you have difficulty knowing where parts of your body are and are having problems with balance.

Electrodiagnostic testsOnce the physical examination is complete, the doctor often will ask you to have an EMG or electromyogram done. There are two parts to this test. The first part tests your different nerves for their ability to carry messages to the muscles and the speed at which the messages are carried. This is called an NCV - nerve conduction velocity test. This test uses pads (electrodes), like a heart ECG, attached at specific points along the nerve and muscle and a very small electric shock is applied to measure the speed at which the shock travels to the muscle, causing the muscle to contract. This test is done on both motor nerves (MNCV) and sensory nerves (SNCV).In CMT type I, nerve conduction speed is slowed. In CMT type II, the nerve conduction speed is usually normal or only mildly slowed but the responses to the stimulus are small. If you have a muscle disease, the nerve conduction speed remains normal. The second part tests the ability of your muscles to respond to electrical impulses supplied by the nerves. This is the uncomfortable part. Very thin needles are inserted into each muscle, and the activity of the muscle is recorded on an oscilloscope (like a TV screen). The muscle activity produces a wave form which shows normal and abnormal muscle activity, the condition of your muscles, whether you have a muscle disease or a nerve disease, and the areas of your body that are involved. (Linda here - These tests are purely diagnostic and can be uncomfortable or painful. A DNA blood test is usually definitive if it can be arranged.)

Blood and urine testsAfter your EMG is done, you may be asked to have blood tests and urine tests, specially if there is no family history. These tests are vital to the diagnosis because they will eliminate other treatable causes of your problem; for example: diabetes, vitamin B12 deficiency, heavy metal poisoning (e.g. lead), nutritional deficiencies and alcoholism. There are many diseases that mimic CMT which always need to be ruled out.

BiopsyA muscle and nerve biopsy is the next thing the doctor may want done. A small piece of muscle and diseased nerve is removed and then examined under a microscope and can lead to a more definite diagnosis. This test is not always advisable due to slower healing ability which sometimes comes with CMT. The area where the biopsy has been done may take a long time to heal and may be quite painful or numb. Discussing this with your doctor prior to the test is important!

DNA testingIf the doctor has found an indication of a demyelinating disease on your EMG (the myelin sheath or covering of the nerve is not intact - imagine an electric cord with the plastic cover that has worn thin) or there is a suspicion that you may have pressure palsies or evidence that the disease was transmitted in a genetic X-linked pattern by family history, you may be asked to have DNA testing done.The DNA testing which is currently available will only diagnose CMT1A, HNPP (hereditary neuropathy with liability to pressure palsies) and X-linked CMT. A DNA test procedure has been developed for CMT 1B; however, it is not widely available yet, as it is in the final testing stages. Therefore, presently available DNA tests will diagnose what is felt to represent about 80% of all CMT but are not useful to diagnose the other types of CMT, e.g. Type II, Type III, IV, etc. (Please go to Athena Diagnostics online to see what tests are available through them and others now do DNA testing in 2017. )

Putting it togetherOnce the doctor has put all this information together, he can then diagnose CMT because of the known characteristics of the disease. Depending on the severity of your symptoms and family history, often the doctor can tell you if you have CMT before completing all the tests. Make sure you ask questions of the doctor and find out why certain tests are necessary. Get all your questions answered… it is your body!

Editor's note: Please remember that diagnosing CMT isn't always easy. It takes a doctor, usually a neurologist who has seen people with CMT before and knows what to look for, to really get to the bottom of things. Expecting a general practitioner who might see one person with CMT every four or five years to immediately pick up on it is unrealistic. Asks your GP to refer you to a neurologist at a large medical facility where chances are they see more people with CMT. Don't be afraid to ask about the blood tests that, if positive, will bring your search for a definitive diagnosis to an end. If there is a Muscular Dystrophy Association clinic in your area ask to be referred there. The MDA and MDAC cover CMT although it is a muscular atrophying disease, not dystrophy.

Drugs/Vitamins

Let's talk about drugswith Linda Crabtree

You and your doctor - a powerful combination

About drugs you should not take when you have Charcot-Marie-Tooth disease

None of us want to do damage to our bodies. We try to eat right, to get enough sleep and to exercise as our CMT permits, but when our doctor prescribes a drug for us, we really haven't the expertise to know if it will hurt us or not. The first thing we must do is make sure that all our doctors know that we have CMT and that they are aware of what some drugs can do to nerves; then, each drug has to be weighed in value of its benefit to you and what ails you. This is between you and your doctor.

I had a scare when a lump was found in my breast during a routine mammogram. The fear of cancer was front and centre but the most profound fear came from knowing that many drugs to treat cancer are on the list of drugs we should not take. Before I had even found out what the lump was, I was preparing a file on drugs and getting myself together to discuss drug therapies that would be suitable for me and my particular case of CMT. I am so sensitive to just about all drugs that I've learned that I have to advocate on my own behalf with any health care professional I may see because he or she IS NOT going to know anything about me and will simply prescribe the normal adult dosage of anything unless we have a good talk and he or she really listens to what I'm saying.

The lump turned out to be nothing to worry about but, if it had, I would have asked for the best cancer specialist possible and made sure he was up on CMT and the cancer drugs that can make it worse. I also would have made sure he knew how terribly sensitive my system was because we are all affected differently by our CMT, all of us react differently to drugs, and no one dosage is right for everyone. I certainly wouldn't want to refuse a drug that could cure my cancer but I wouldn't want to end up much worse than I am now (my CMT is severe) if there was another drug or therapy that could do as well but not make my CMT worse.

Weighing the pros and cons of available therapies is the only way to go whether they be for cancer, bladder infections, fungal infections, whatever. The value of the drug to you, is there something else just as good, and what will it do to my CMT all have to be taken into consideration. My motto is: BE AWARE and BEWARE which means be informed or aware of what can harm you, not just from this list but from everything you've taken and the experiences you've had throughout your lifetime with drugs, even vitamins. And, with this knowledge, be forewarned that you can be harmed by some drugs whether they are on the list or not. This list is not written in stone. I've heard from thousands of people who have had negative reactions from other drugs, some of them quite severe and some that were lasting. It is the nature of a drug to provide a reaction, a positive one is what we all strive for or we wouldn't take it, but with the positive can also come a negative.

Take this list to every physician you see. Make sure he puts it on the inside flap of your folder so it doesn't get buried and make doubly sure that he is aware of the fact that you have CMT and that your CMT could be made worse by certain drugs. Then, taking all this into consideration, it is up to you and your physician to look at the problem that exists and to look into alternative drugs that might not pose a risk to your CMT.

Dr. Thomas Bird, Chief of Neurology, Department of Veterans Affairs, Medical Center in Seattle, WA and one of the advisors to CMT International, said that Dilantin, which is a commonly used anticonvulsant drug for people with epilepsy or seizures, is most likely safe and poses little risk in reasonable doses. He also said that the patient should bring these issues to the attention of their doctor and other equally efficacious medications should be used whenever possible.The drug list also names several drugs used in the treatment of cancer, such as Vincristine. (For an up-to-date list of drugs you should not take when you have CMT go to www.cmtausa.org - L.C. - 2017)

About drugs and the weakness they can cause

Linda here: I was concerned about some of the drugs people with CMT are given and the weakness some of us seem to experience, so I e-mailed Dr. Gareth Parry. This is what I said: I was prescribed Imovane for sleep and got so weak I couldn't transfer from scooter to toilet or into the car. After five weeks, I weaned off it over a few days and three weeks later I had my strength back but it was pretty debilitating and frightening while it lasted. The prescription was for six months with three repeats. My doctor had no idea Imovane would do that to me. My breathing was also compromised at night and he said it could not affect my breathing.I have heard from several people who are having muscle weakness with cholesterol lowering drugs. Could you comment on weakness due to drugs and on cholesterol lowering drugs please.

Dr. Parry writes: There are really several issues here.1. Some drugs have been shown to cause nerve damage in CMT patients resulting in a deterioration in strength that is not usually reversible even if the drug is stopped. Fortunately this is an uncommon situation and is best characterized by the recognized problems with vincristine. These drugs should never be used unless there is absolutely no alternative.

2. There are many drugs that cause clinically significant neuropathy andtherefore are likely to result in worsening of CMT. These drugs have not necessarily been shown to have this effect in CMT patients but it just makes sense to avoid them if at all possible. Most of the drugs on the list fall into this category.

3. There are drugs that possibly cause neuropathy or cause a neuropathy that is clinically insignificant. Once again, it seems wise to avoid these drugs unless there is no suitable alternative. A good example of this is dilantin. It does seem to cause a neuropathy but it is rarely, if ever, clinically significant. However, I would not regard dilantin as a first choice in the treatment of epilepsy in CMT patients. On the other hand, if dilantin proved to be the most effective drug in controlling seizures, I would not hesitate to use it even in a CMT patient because the risk of seizures far outweighs the remote possibility that dilantin will make the CMT worse.

4. There are drugs that cause weakness by a mechanism unrelated to worsening of neuropathy. The best example of this is Lipitor (and otherstatin drugs used to lower blood cholesterol). In rare instances they cause muscle damage and therefore could make a CMT patient worse even though the effect is not on the nerve itself. With these drugs, it depends on the balance of risks. A patient with a very high cholesterol is at increased risk of death or disability from stroke or heart attack and this risk can be reduced with statins. However, if the cholesterol can be reduced through diet and exercise (not easy in CMT patients because of their difficulty exercising) then it would obviously be preferable to using a statin.

5. There are drugs that probably do cause a clinically significant neuropathy but only rarely and in certain susceptible individuals. Again, an example of this would be the statins (such as Lipitor).

6. There are drugs that act on the central nervous system to cause fatigue and an overwhelming sense of weakness but which have no proven effect on nerves or muscle. The effects of these drugs are almost always reversible and the effects are very different for different individuals. A good example of this is amitriptyline. This, and similar drugs, are frequently used to treat neuropathic pain in CMT patients and while most experience some tiredness, some feel so exhausted that they can't get out of bed.

Usually the tiredness improves with time but not always. Imovane is in this category. Since the effects are reversible I don't hesitate to use the drugs but make my patients aware of the potential for extreme fatigue.

The general principles for dealing with drugs in CMT patients is that you shouldn't take any medication unless you need it; you should never take a known neurotoxic drug unless there is absolutely no alternative and you should never take any drug that causes weakness and fatigue, even if it doesn't directly affect the nerves, unless there is no alternative.

Finally, you should always question your doctor and pharmacist about possible adverse effects of the drugs they are prescribing and dispensing, particularly in relation to your CMT.

Gareth J. Parry,Neurologist, Auckland HospitalProfessor of Neurology, University of Minnesota.

Linda here: The medical profession now doesn't always prescribe statins. Talk to your doctor about controlling blood pressure and cholesterol other ways. And, read the small print on a drug. Go online and look at everything on it, read to the very last sentence. Some drug companies will mention muscle weakness, fatigue or tiredness. Think about this as they are usually ten times worse when you have CMT.

Doctors reiterate that alcohol is the worst thing we can take into our bodies on a regular basis. From shaky knees, numbness, tremors, confusion and almost instant DTs, the consumption of alcohol has made it abundantly clear to some people with CMT that they should not drink. Some people with CMT can drink, in moderation, with no problems but you should be aware that it is not the best thing to do for your CMT. This is what Dr. Victor Ionasescu had to say about alcohol.

The close association of alcoholism and peripheral nerve disease has been appreciated for many years. In a study of 1030 alcoholics admitted to Boston City Hospital, 92 (9%) proved to have peripheral nerve disease (Victor, M and Adams, RD: The Effect of Alcohol on the Nervous System. Res Publ Assoc Res Nerve Dis 1953, 32:526). In the background of patients with alcoholic neuropathy, two features are invariably present: the abuse of alcohol, usually severe in degree and of many years' duration, and dietary deficiency. The diets of these patients were conspicuously low in meat and fish, cereals and fresh fruits and vegetables.

The essential pathologic alteration in alcoholic neuropathy is a degeneration of the peripheral nerves. Both myelin and axons are destroyed, the latter probably earlier and to a greater extent than the former. More recent studies definitely indicated that segmental demyelination is a rare finding in alcoholic neuropathy and axonal degeneration is the basic histologic abnormality. The clinical picture varies considerably. In its mildest form, the neuropathy is virtually asymptomatic, the presence of peripheral nerve disease being disclosed only on neurologic examination.

The neuropathic signs in these asymptomatic cases consist of thinness and tenderness of the leg muscles, loss of depression of some reflexes and an inconstant impairment in the perception of painful and tactile stimuli over the feet and shins. If alcoholic patients are examined electrophysiologically, a certain proportion will show impairment of peripheral nerve function before the clinical signs of neuropathy can be detected. The majority of alcoholic patients with involvement of the peripheral nerves have symptoms - weakness, tingling, numbness, and pain of the feet and hands. These symptoms are usually insidious in onset and slowly progressive.

Charcot-Marie-Tooth (CMT) neuropathy is characterized by weakness of the feet and hands, foot deformities, including permanently flexed "hammer" toes, and unusually high arches and some loss of sensation in the limbs.

The disease is inherited in different ways: autosomal dominant, autosomal recessive or X-linked. The motor symptoms (weakness) and the pathology (nerve degeneration) resemble very much the alcoholic neuropathy. The main distinctions are: a) presence of foot deformities, b) absence of mildness of sensory symptoms such as tingling, numbness and pain of the feet and hands.

Recently, we became aware that some of our CMT patients have an excessive daily intake of alcohol (more than three glasses of wine per day). We compared the neurologic signs in the few alcoholic and the large group of non-alcoholic CMT patients. The numbers of alcoholic CMT patients is small and does not allow statistical analysis. However, it is obvious that the alcoholic CMT patients have more severe weakness and/or sensory symptoms than the non-alcoholic CMT patients. Close questioning of two alcoholic CMT patients disclosed that there was a sudden worsening of symptoms after alcohol daily intake on a background of chronic and relatively mild neuropathy. These findings should not surprise us. The abuse of alcohol is more damaging for CMT nerves which already show a degeneration secondary to the undetermined genetic defect.

In conclusion, alcoholic drinks should be forsaken entirely or strictly limited if you have CMT.

Smoking tobacco can also be harmful as the products in the tobacco can harm the nerves and close down the capillaries. If you think you have cold hands and feet all the time, talk to a person who has CMT and smokes.The following is part of an article on the topic:

Let's talk about some of the things smoking cigarettes does to your body with particular attention to CMT. The heart and lungs take the biggest brunt of cigarette smoking. The respiratory (breathing) system is amazingly well-designed and can put up with unbelievable assaults but years of inhaling carbon and tar-laced smoke can oftentimes be too much. Lung cancer, although still relatively uncommon, occurs at a much higher rate in smokers. The more concerning and extremely common problem in long-term smokers is emphysema, also known as chronic obstructive pulmonary disease (COPD). This is really a problem with the airways (bronchi). The bronchi become inflamed from the smoke, which paralyzes the ability of small air-like cells in the bronchial walls to clear mucus and bacteria. This leads to permanent damage and explains why smokers are so prone to chronic bronchitis.

In the end stage of COPD, the lungs also become damaged and overinflated giving people a "barrel chested" appearance. Death from COPD is horrid with a chronic air hunger that cannot be satisfied. I have witnessed it hundreds of times in my patients. This is made even worse in CMT since the phrenic nerve, which controls breathing, is affected. So take everything I just said and multiply it by ten.

Next, let's look at the heart and vascular system. Although these systems are not directly affected by CMT, damage to them can decrease blood flow to vital structures, like nerves, which are involved. Nicotine is a direct cardiac stimulant and also works through adrenaline. This puts a demand on your heart making it pump harder into a vascular system that is "clamping down" from the nicotine which is making your blood vessels constrict. The result: hypertension, peripheral vascular disease and coronary artery disease. The secondary effects: strokes, heart attacks, limb amputation.

Now put that into the context of CMT. The decreased blood flow to the arms and legs can further cause damage by limiting the amount of oxygen that gets to the nerves. Chronic vasoconstriction eventually causes permanent clogging of the arteries known as peripheral vascular disease (PVD). This can lead to the development of ischemic ulcers (open sores) which can get infected and gangrenous, possibly leading to limb amputation. People with CMT are already at risk for neuropathic ulcers, so this is an extremely dangerous situation. Many people with CMT complain of cold hands and feet which can be greatly worsened by cigarette smoking.

The genitourinary system is also affected by smoking which can increase the risk for bladder cancer. Smoking can also lead to impotence in men by cutting down the blood flow to the penis, impairing erectile function which may already be impaired by CMT.

This article was meant to be a brief highlight of some of the perils of cigarette smoking with particular attention to CMT. There are so many health problems associated with smoking that it would take a large book to cover them all, and we didn't even talk about second-hand smoke or chewing tobacco.

In closing let me give you some simple and free advice that may be the most important words you ever hear from a doctor: Don't start smoking. If you already smoke, do whatever it takes to quit (it isn't easy, I suggest formal addiction recovery programs), and if you live with someone who smokes, get them to quit because second-hand smoke is harming your health.

Doctors reiterate that alcohol is the worst thing we can take into our bodies on a regular basis. From shaky knees, numbness, tremors, confusion and almost instant DTs, the consumption of alcohol has made it abundantly clear to some people with CMT that they should not drink. Some people with CMT can drink, in moderation, with no problems but you should be aware that it is not the best thing to do for your CMT. This is what Dr. Victor Ionasescu had to say about alcohol.The Damaging Effect of Alcohol in Charcot-Marie-Tooth Diseaseby Dr. Victor Ionasescu (April 1989)

The close association of alcoholism and peripheral nerve disease has been appreciated for many years. In a study of 1030 alcoholics admitted to Boston City Hospital, 92 (9%) proved to have peripheral nerve disease (Victor, M and Adams, RD: The Effect of Alcohol on the Nervous System. Res Publ Assoc Res Nerve Dis 1953, 32:526). In the background of patients with alcoholic neuropathy, two features are invariably present: the abuse of alcohol, usually severe in degree and of many years' duration, and dietary deficiency. The diets of these patients were conspicuously low in meat and fish, cereals and fresh fruits and vegetables.

The essential pathologic alteration in alcoholic neuropathy is a degeneration of the peripheral nerves. Both myelin and axons are destroyed, the latter probably earlier and to a greater extent than the former. More recent studies definitely indicated that segmental demyelination is a rare finding in alcoholic neuropathy and axonal degeneration is the basic histologic abnormality. The clinical picture varies considerably. In its mildest form, the neuropathy is virtually asymptomatic, the presence of peripheral nerve disease being disclosed only on neurologic examination.

The neuropathic signs in these asymptomatic cases consist of thinness and tenderness of the leg muscles, loss of depression of some reflexes and an inconstant impairment in the perception of painful and tactile stimuli over the feet and shins. If alcoholic patients are examined electrophysiologically, a certain proportion will show impairment of peripheral nerve function before the clinical signs of neuropathy can be detected. The majority of alcoholic patients with involvement of the peripheral nerves have symptoms - weakness, tingling, numbness, and pain of the feet and hands. These symptoms are usually insidious in onset and slowly progressive.

Charcot-Marie-Tooth (CMT) neuropathy is characterized by weakness of the feet and hands, foot deformities, including permanently flexed "hammer" toes, and unusually high arches and some loss of sensation in the limbs.

The disease is inherited in different ways: autosomal dominant, autosomal recessive or X-linked. The motor symptoms (weakness) and the pathology (nerve degeneration) resemble very much the alcoholic neuropathy. The main distinctions are: a) presence of foot deformities, b) absence of mildness of sensory symptoms such as tingling, numbness and pain of the feet and hands.

Recently, we became aware that some of our CMT patients have an excessive daily intake of alcohol (more than three glasses of wine per day). We compared the neurologic signs in the few alcoholic and the large group of non-alcoholic CMT patients. The numbers of alcoholic CMT patients is small and does not allow statistical analysis. However, it is obvious that the alcoholic CMT patients have more severe weakness and/or sensory symptoms than the non-alcoholic CMT patients. Close questioning of two alcoholic CMT patients disclosed that there was a sudden worsening of symptoms after alcohol daily intake on a background of chronic and relatively mild neuropathy. These findings should not surprise us. The abuse of alcohol is more damaging for CMT nerves which already show a degeneration secondary to the undetermined genetic defect.

In conclusion, alcoholic drinks should be forsaken entirely or strictly limited if you have CMT.

Smoking tobacco can also be harmful as the products in the tobacco can harm the nerves and close down the capillaries. If you think you have cold hands and feet all the time, talk to a person who has CMT and smokes.The following is part of an article on the topic:​

Over the past few decades there has been widening interest in the viable medicinal uses of cannabis (marijuana). The National Institutes of Health (NIH), the Institute of Medicine and the Food and Drug Administration have all issued statements calling for further investigation. Cannabis has enjoyed a reputation as a therapeutic in many cultures for thousands of years. However its use in Western medicine died out in the 1930s over fears regarding its abuse potential. In the last decade there has been considerable advances in the understanding of the scientific basis of cannabinoid therapeutics, leading to a resurgence of interest in potential medicinal applications.

Historically cannabis has been a valuable source of hemp fiber for many thousands of years. One of the first references to the medicinal use of cannabis may be found in Chinese pharmacopoeia dating to 2800 BC, documenting its use for pain relief. Indian writings in the Athera Veda dating to about 2000 BC, also refer to the therapeutic effects of cannabis. There is archeological evidence from Israel that cannabis was used therapeutically during childbirth. In the Greek and Roman eras, both the Herbal of Dioscorides and the writings of Galen refer to the therapeutic effects of cannabis. Cannabis came to western medicine far later when army physician William O’Shaughnessy used it medicinally in 1842. U.S. physicians frequently used it medicinally until it was made illegal in 1937.

The recent discovery of a specific receptor system in our brains and nerves has led the progression of our understanding of the actions of cannabis from folklore to valid science. It now appears that the “cannabinoid” system evolved with our species and is intricately involved in normal human physiology, specifically in the control of movement, pain, memory and appetite, among others. Dense receptor concentrations have been found in the parts of the brain that control motor tone, coordination and mood state. Low concentrations are found in the brainstem, accounting for the remarkably low toxicity. Lethal doses in humans have not been described.

Marijuana is a complex plant, with several types of subtypes of cannabis, each containing over 400 chemicals. Approximately 60 are chemically classified as cannabinoids. The cannabinoids are fat-soluble and will not dissolve in water. Structurally similar compounds, known as flavinoids, are also found in chocolate. Among the most psychoactive of the cannabinoids is the well-known delta-9-tetrahydrocannabinol, or THC, the active ingredient in dronabinol, which can be obtained by prescription. Other major cannabinoids include cannabidiol (CBD) and cannabinol (CBN), both of which may modify the actions of THC or have distinct effects of their own. CBD is not psychoactive but has significant anticonvulsant, sedative, and other pharmacological activity likely to interact with THC. At least two “internal” compounds manufactured in our body have been identified as cannabinoids. There are likely more. The roles of these internal cannabinoids have been only partially clarified but available evidence suggests they function as nerve messengers and may modulate nerve transmission. Signaling by the cannabinoid system appears to represent a mechanism by which nerves can communicate backwards across synapses to modulate their inputs. Cannabinoids appear to allow nerves to adjust the frequency of their input, much like adjusting the volume on your television. This may be the mechanism by which they help control pain and spasticity.

As we are developing an increased understanding of the physiological function of cannabinoids it is becoming evident that they may be involved in the pathology of some diseases, particularly neurological disorders. Cannabinoids may induce both growth and death in a number of cells, including neurons. In the central nervous system (CNS), most of the experimental evidence indicates that cannabinoids may protect neurons from damage induced by toxic and traumatic insults. This “neuroprotective” effect of cannabinoids may have potential clinical relevance for the treatment of neurodegenerative disorders, including CMT, as well as amyotrophic lateral sclerosis (ALS), multiple sclerosis (MS), Parkinson’s disease, and injuries incurred when the brain is deprived of oxygen such as in a stroke. Oxidation is like rust on iron. It occurs when cells accumulate “free radicals” which are unpaired oxygen atoms. These are very toxic to cells and occur in physical injury as well as aging and some diseases. Well known anti-oxidants which many of us take include alpha-tocopherol (vitamin E), ascorbic acid (Vitamin C), flaxseed oil, beta-carotene (vitamin A), pychnogenols, and selenium, among others. Anti-oxidants bind up free radicals and prevent them from damaging cells. Recent studies have demonstrated the neuroprotective effects of synthetic, non-psychotropic cannabinoids, which appear to protect neurons from chemically-induced toxicity. Direct measurement of oxidative stress reveals that cannabinoids prevent cell death by anti-oxidation. The anti-oxidative property of cannabinoids is confirmed by their ability to antagonize oxidative stress and consequent cell death induced by the powerful oxidant poison, retinoid anhydroretinol. The neuroprotective actions of cannabidiol and other cannabinoids were examined in rat brain nerve cells exposed to toxic levels of the excitatory neurotransmitter glutamate. Glutamate toxicity was reduced by both CBD (nonpsychoactive), and THC. CBD was more protective against glutamate neurotoxicity than either vitamin C or E.

In addition, cannabinoids produce analgesia (pain relief) by modulating brain activity in a manner similar to, but pharmacologically distinct from, that of morphine and other opioids. Cannabinoids have been shown to produce an anti-inflammatory effect by inhibiting the production and action of tumor necrosis factor (TNF) and other acute phase cytokines, which are chemicals our body produces to help control inflammation and modulate our immune system.

A growing number of strategies for separating sought-after therapeutic effects of cannabinoid receptor agonists from the unwanted consequences of cannabinoid receptor activation are now emerging. This will hopefully allow for the refinement of cannabinoids with high therapeutic potential and would facilitate designing maximally therapeutic drugs from the cannabinoid family.

Effective delivery systems are also needed. Because the cannabinoids are volatile, they will vaporize at a temperature much lower than actual combustion. Thus heated air can be drawn through marijuana and the active compounds will vaporize, which can then be inhaled. Theoretically this removes most of the health hazards of smoking, although this has not been well studied. Recently, pharmacologically active, aerosolized forms of THC have been developed. This was done via a small particle nebulizer that generated an aerosol that could penetrate deeply into the lungs. There are currently ongoing trials in Canada and the U.K. using a form of oral cannabis.

From a regulatory perspective, the scientific process should be allowed to evaluate the potential therapeutic effects of cannabis, dissociated from any societal debate over any potential deleterious effects of recreational or nonmedical marijuana use. This class of compounds not only holds tremendous therapeutic potential for neurological disease but also continues to be confirmed as having remarkably low toxicity.

Dr. Gregory T. Carter is a physiatrist well-versed in CMT. Linda here - If you are interested in trying cannabis for pain or spasm but do not want to smoke it, it can be ingested but a little goes a long way, or look up a vaporizer called the PAX. Cannabis is legal for medical use in many American states and in Canada.

Drug information For more Internet information, not specific to CMT, on all kinds of drugs, visit Rxlist

How vitamins affect your health

Vitamins help your body transform food into energy. They are essential for growth and maintenance of your health. Your body requires only small amounts of vitamins. In most cases, a balanced diet supplies them.Under a physician's care, large doses of some vitamins can help in the treatment of certain rare diseases. However, most people do not need vitamin supplements. In fact, large doses - sometimes referred to as "megadoses" - can cause serious side effects.An estimated 40 per cent of the U.S, population has been taking supplemental vitamins in recent years. Vitamin supplements containing 10, 50 and even 250 times the daily RDA are widely available. Proponents of "megavitamin therapy" claim a host of benefits: prevention of disease, faster healing, improved sexual performance, better ability to cope with stress, and treatment for depression are common examples. But there is little scientific evidence to support these claims.

Doctors who prescribe vitamin B6 to carpal tunnel syndrome patients could be doing them more harm than good, a University of Michigan study indicates.The vitamin supplements could cause serious nerve damage to patients with the painful wrist ailment, the study said.Doctors occasionally prescribe B6 to carpal tunnel syndrome patients because limited studies have indicated the vitamin may have some therapeutic effects, said Dr. Alfred Franzblau of the University of Michigan School of Public Health. But this is not so, Franzblau said."When you actually look at these studies and review them carefully, they are very, very bad," he said last week.Franzblau said the U.S. Recommended Dietary Allowance of B6 for adults is 1.6 to 2.0 milligrams a day. Doctors are prescribing supplements of 150 milligrams to 300 milligrams a day.Too much B6 can cause permanent nerve damage, including symptoms that mirror multiple sclerosis, experts say.Uncovering the harmful effects of vitamin B6Critics of megavitamin therapy often have been tolerant of the practice because it seemed to do no harm. This view was especially common in the case of water-soluble vitamins such as vitamin B6. The amount beyond that needed by your body was presumably harmless and eliminated in the urine. (Fat-soluble vitamins are stored in fat cells and remain for a longer time in your body.)Recently abuse of vitamin B6 has been the focus of much concern. Vitamin B6 has been touted as a way to build muscles; to relieve fluid retention and other problems associated with premenstrual syndrome (PMS); and to treat kidney stones, nausea during pregnancy and a variety of chronic pain syndromes.Like the claims for megavitamin therapy in general, these attributes of vitamin B6 have never been verified. But we do know that excessive consumption of vitamin B6 can cause serious nerve damage.Symptoms include unsteadiness (to the point of being unable to walk without a cane) and numbness or tingling of the feet and hands. When large doss of vitamin B6 are taken, microscopic analysis shows deterioration of nerve fibers in direct proportion to the amount of B6 ingested. Large dose4s of vitamin B6 also can alter the effects of penicillin, some medications for Parkinson's disease and certain anticonvulsants.Discontinuing megadose therapy will reduce or eliminate most symptoms. However, adverse effects can linger for more than a year in some cases.It is recommended that youAvoid self-medication with large doses of any vitamins. But particularly vitamin B6. Although vitamins are a "natural" part of your diet, some can have toxic effects if the dosage is too large.We discourage megavitamin therapy except in rare instances, when supervised by a physician.If you take vitamin supplements in excess of 100 per cent of the daily RDA, we urge you to tell your doctor. This information can be of vital importance to your doctor in assessing your health and prescribing medications for you.

Vitamin B6The following items are on vitamin B6 and they reinforce the fact that vit. B6 can be harmful.Megadoses of Vitamin B6Harmless vitamin can lead to serious nerve problems (February 1989)

"It can't hurt and it might help, so why not?" "More is better." "You can't get too much of a good thing."

Our society's casual attitude toward multivitamins has dangerous implications. Only a few generations ago, vitamin deficiency was a frequent cause of disease; today, people sometimes have health problems because they take too many vitamins.

Evidence now shows that at least one vitamin - B6 (Pyridoxine) - can cause serious harm.

Despite a daily recommended dietary allowance (RDA) of 2 or 3 milligrams of vitamin B6, tablets containing as much as 50 and 500 milligrams are readily available. People who apparently believe vitamin B6 has no side effects sometimes consume 1,000 milligrams or more each day. Such excessive dosages have recently been linked to incapacitating nerve damage, from which recovery often can take months or even years. In rare cases, the nerve damage may be permanent.

CoQ10

During the past few years some people with CMT have started taking CoQ10, a dietary supplement. Some have found they feel more energetic, some have seen an improvement in breathing problems, while some have seen an improvement in the symptoms of asthma and don't need to use their inhalers as much. Some have reported they have healthier gums.

The amount taken by most is up to and including 120 mgs a day although 400 mgs. is sold. It usually takes a month or so before any change is noticed. Research is being done on CoQ10 but right now we are flying by the seat of our pants with this one but because mainly positive results have been reported by quite a few people, it is only fair to mention it to you.

CoQ10 can be purchased in your local health food store.

Drug Q & A

Questions I've been asked about drugs over the years:

Q: How do we know if we are reacting badly to a drug?A: I can only list some of the symptoms I've read about in your letters and from personal experience. By paying attention to your body you'll know if something isn't right and it's then that you should get in touch with the prescribing physician or your pharmacist or, if it is really bad, go to the emergency department of your hospital. Some reactions can happen within 20 minutes, while other drugs can take days, weeks and months to slowly make our CMT worse.

Some quick reactions could be extreme coldness or flushing, inability to concentrate, blurry vision, fainting, nausea, cramping, an overall feeling of unwellness. Some, which can occur in hours or days, are numbness in extremities, even lips, tremor, muscle weakness, and these can progress into a complete exacerbation of your CMT if steps aren't taken. Remember, everyone is different, so if you are having an adverse reaction to a drug, you may not fit the possibles mentioned. If you feel that you are having a reaction, act on it, don't ignore it and suffer in silence. Your silence could mean the difference between catching a drug reaction and a much worsened case of CMT.

Q: Are the long-term, drug-caused symptoms reversible?A: Most symptoms go away in hours or days after you stop taking the drug, but in some people who have taken a drug over a fairly long period, they can be left with much worse CMT than they had before they took the drug, and there is nothing they an do about it but wait and hope.

Q: If vitamin B6 (pyridoxine) can be toxic to us in large doses, how much is too much?A: Dr. Bird answered this question a while back. "Large amounts of vitamin B6 can be toxic to nerves. The exact dose that is "too much" is not known. I would advise not taking more than 50mg a day."Also remember that there is vit. B6 in foods (the highest are Brewer's Yeast, carrots, chicken, eggs, fish, meat, peas, spinach, sunflower seeds, walnuts and wheat germ) and check your other vitamins to make sure they don't have additional B6 added. A one-a-day type vitamin usually has a low amount of B6 in it. I'd say take as low a daily dose of vit. B6 as possible in your daily vitamins if you must take any at all. Vit. B6 in food is fine but don't supplement your diet with vit. B6. I know advice is often confusing and contradictory so why not play it safe and just take in what is in your food and maybe a one-a-day type vitamin.

Q: Are there any other harmful vitamins?A: Mega-doses of any vitamin have the potential to harm. Vitamins A and D in large doses can be harmful to us but there hasn't been any real work done on it in conjunction with CMT.

K PotassiumQuestion from Esther Swain: When my husband was having the nerve and muscle biopsy surgery done, they discovered he had slightly lower than average levels of K. No amount of shots, pills or K-rich foods cold raise it. He just doesn't absorb the normal amount. The doctors were amazed. In talking to a friend of mine who is a medical student, I learned that K is essential for proper nerve function. Without it, nerve cells can't send out impulses correctly; in other words, they misfire. My question is: Do others with CMT have lower levels of K? Is it a cause or an effect of CMT? Does the body fail to absorb K because the nerve no longer needs as much or is K not being absorbed and thus adding to the malfunction of the nerve cells?Answer from Dr. Orest Hurko, Associate Professor, Neurology and Medicine, The Center for Medical Genetics, The Johns Hopkins Hospital, Baltimore, MD. Potassium deficiency is not a feature of CMT. Potassium is not only required for proper function of nerves but also of the heart and skeletal muscle. Abnormalities of potassium most commonly result from diuretic medications but can also reflect hormonal imbalance, losses from diarrhea or certain benign tumors of the colon, as well as some type of kidney disease. If a patient has a significant abnormality in their potassium levels, it is important not only to treat the deficiency but also to identify the underlying problem. It isn't CMT.

Q: My husband's doctor prescribed Flagyl for an infection and his CMT got so much worse. I thought Flagyl was only for women's yeast infections.A: Flagyl is used for all kinds of things. It is an antiprotozoal (will not let Protozoa, which can account for various infections, grow) and antibacterial agent and it is definitely one of the drugs that can make your CMT worse. My dog was put on it for recurring bowel inflammations. Flagyl can also be in over-the-counter remedies, so check the ingredients for Metronidazole before buying.

Q: I am a family physician caring for a CMT patient who is bipolar (manic depression). He has stopped his lithium due to info on the web that lithium is contra-indicated in CMT. Neither I nor his neurologist have found any medical literature describing such a contra-indication. A: Dr. Thomas Bird answers this question:This is one of those seemingly simple questions that turns out to be complex and sent me off to the medical library. Bipolar disorder (manic-depressive illness) is relatively common and lithium is a mainstay of therapy that is often critical to the patient's well-being. (This is impressively and poignantly described in "An Unquiet Mind" by Kay Jamison, Knopf, 1995.)The key issues for your readers are: Does lithium cause peripheral nerve damage and is it dangerous to take if you have CMT? As best I can tell, thee is no clear cut answer. There have been a few reported instances of severe nerve damage in persons who have been intoxicated or overdosed with lithium. Thus, there is some evidence that it is a nerve toxin in high doses.

There is very little information as to whether it causes mild nerve damage in normally prescribed doses, but one 20-some-year-old article suggests that it might. Lithium rarely if ever appears on lists of peripheral nerve toxins and is often not even mentioned in textbooks of peripheral nerve disease. It looks like this may be an "obscure" area of interest in clinical neuroscience about which we need more information.

I would presently be reticent to tell someone with bipolar disorder and CMT not to take lithium, but on the other hand, there is some evidence for nerve toxicity, so I would keep doses on the low side and search for more information.

Q: My dentist wants to put a gold crown on two of my teeth. The list says gold is contra-indicated for CMT. What should I tell him?A: The gold that is talked about on the list is gold injections that are sometimes given for severe arthritis or rheumatism, not gold fillings.

Q: I have many silver amalgam fillings that contain mercury. Will they make my CMT worse?A: There are mixed opinions on this and it is up to you to decide what you want to do after you've read everything about it you can get your hands on about the topic. Obviously, the fewer mercury fillings the better. We asked the Canadian Dental Association for their input and they sent us a fax telling us where they stand along with some statements from Health Canada. These say that the evidence isn't there to suggest that mercury amalgam fillings have caused severe disease and nerve damage in people. Conclusion #2 which quotes the U.S. Public Health Service says: "Current evidence does not indicate that mercury contributes to Alzheimer's disease, amytrophic lateral sclerosis, multiple sclerosis or Parkinson's disease."

Health Canada advises that amalgam fillings not be used in the primary teeth of children or be placed in or taken out of the mouths of pregnant women.

The directive also says:"…the use of (Mercury) amalgam is to be decreased as much as possible in order to reduce the strain on the body caused by general mercury intake."

I'm wondering if, when the nervous system is already stressed because of our CMT, the addition of mercury fillings simply add to it and contribute to our overall condition. There has been no research. Should you purposely have them changed? It's up to you and if you think it can help and your pocketbook of course; it's a costly, time-consuming, uncomfortable affair but several of our people have said they think it has helped.

Q: Talking about dentistry, what about freezing? That's a drug isn't it?A: Yes, several type of drugs are used in dental freezing and some may not work for you. See CMT and dentistry

Q: What about anesthetics for surgical procedures?A: Anesthetics are drugs, and we've covered the whole question of preparing for surgery, anesthetics, everything. Look under Anesthetics.

Q: Are there any drugs that can help my CMT?A: There is a type of CMT that responds to the drug Prednisone and that form is a progressive form of chronic inflammatory-demyelinating polyradiculoneuropathy, and in addition, people who have it experience all of the symptoms of hereditary motor and sensory neuropathy. Prednisone is not a cure and only helps this particular group

Q: Is there any way I can tell if a drug could be potentially harmful to me?A: Talk to your doctor when he prescribes it and talk to your pharmacist when he fills the prescription. While your doctor may not take the time to look the drug up, your pharmacist most likely will. Look for the words "could cause peripheral neuropathy" in the drug description. I'm told that thousands of drugs have this line in their description because the drug companies must warn everyone of anything they think could happen, but if you worry about a drug on the list and its possible side effects, know that in almost all the conditions in which these drugs are used an alternative drug can be found.

Q: What about alcohol and tobacco…why are they on the list?A: Doctors reiterate that alcohol is the worst thing we can take into our bodies on a regular basis. From shaky knees, numbness, tremors, confusion and almost instant DTs, the consumption of alcohol has made it abundantly clear to some people with CMT that they should not drink. Some people with CMT can drink, in moderation, with no problems but you should be aware that it is not the best thing to do for your CMT.

Exercise

Linda here - April 2017 - There will always be those who think that pushing exercise will make us stronger in spite of the fact that we have a progressively debilitating neuromuscular condition. In our case pain does NOT make gain. Pain is telling us we are doing harm and exercising to exhaustion can see very real harm done and your CMT will worsen if you are pushing muscles served by CMT affected nerves. I am going to put part of an article by Dr. Greg Carter here. It says it all. I can not be any clearer on the subject.

"Aerobic exercise not only improves physical functioning but is beneficial in fighting depression and improving pain tolerance, two things that are critical in CMT. There have been few well-controlled studies looking at exercise induced strength gains in CMT. My colleague Dr. Dave Kilmer had CMT subjects do a 12 week moderate resistance (30% of maximum isometric force) exercise program which resulted in strength gains ranging from 4% to 20% without any notable deleterious effects. However, in the same population, a 12 week high resistance (training at the maximum weight a subject could lift 12 times) exercise program showed no further added beneficial effect compared to the moderate resistance program and there was evidence of overwork weakness in some of the subjects. The risk for overwork weakness is great in CMT and exercise should be prescribed cautiously and with a common sense approach. People with CMT should be advised not to exercise to exhaustion, which can produce more muscle damage and dysfunction. The warning signs of overwork weakness include feeling weaker rather than stronger within 30 minutes post exercise or excessive muscle soreness 24-48 hours following exercise. Other warning signs include severe muscle cramping, heaviness in the extremities, and prolonged shortness of breath. Nonetheless, gentle, low impact aerobic exercise like walking, swimming, and stationary bicycling will improve cardiovascular performance and increase muscle efficiency, and thus help fight fatigue."

FALLSby Linda Crabtree

While most of us don't need an excuse to fall, 'tis the season to go flying on ice and wet floors. Here are some observations regarding our CMT and falling.

• A fall can shock you. It is like being in an accident. Don't try to get up and go right after a fall. Use common sense. Settle down before you get going again. Releasing emotion through tears or even cursing often happens. Falls happen, there is no blame. Facing that reality and being as graceful and in control as possible helps everyone concerned.

• A fall can be embarrassing, but a bit of humour when you fall in public can work wonders. Be honest if you think you've hurt yourself. Ignoring injury can lead to serious complications.

• You can fall easily after having just fallen. Often we are still shaken from the previous fall when we try to walk and can easily fall again.

• Don't try to do things while walking. You know the joke about the fellow who was so dumb he couldn't walk and chew gum at the same time. CMT doesn't affect the brain but we have enough trouble just balancing. Trying to carry anything that puts us off balance or blocks our view of what's in front of us can cause a fall.

• An emotional upset can mean we are more vulnerable to a fall. Grieving, marital upset, a "discussion" with the kids or a personal worry can mean you are preoccupied and definitely not watching where you are going.

• Which brings us to the simple observation that if we watch where we are going, really concern ourselves with the lay of the land, we'll be better off. Because our feet don't automatically go where they are supposed to, knowing what lies ahead helps.

• Don't be your own worst enemy. Do up shoelaces, wear footwear that fits properly, get rid of scatter mats, and if high pile carpeting makes you trip, replace it. Carpet in bathroom and kitchen makes sense, as do grab bars in bathrooms.

• Have your helping systems in place. A bag of frozen peas wrapped in a towel makes a great cold pack, to reduce swelling. A stool with casters can double as a wheelchair. A cane kept in the closet can help when you can put pressure on the leg. A simple walker that costs about $100 kept in a closet can mean the difference between bed and getting around.

• Don't take any surface for granted. Observe and test before taking a step, especially in tub and shower!

• Falling often could be a sign that your CMT has progressed and you need help in the form of different shoes or an orthotic. Take care of things as they happen and chances are you won't be overwhelmed with a major problem later.

• Know when to use a helping aid. The right shoe, the right bracing can make a lot of difference in your balance and ability to walk without falling.

• We all fall. None of us plan on it, all of us get up again but sometimes a fall can be serious. Pace yourself, make a personal commitment to not hurry for anything or anyone, keep your mind on walking, watch where you are going and chances are you'll stay vertical.

Proprioception is a term that refers to our ability to know where a body part is located in space and to recognize movements of body parts (such as fingers and toes, feet and hands, legs and arm.). Our joints and muscles have tiny receptors that respond to movement. These receptors send signals along peripheral nerves to the spinal cord. These electrical signals then travel up the spinal cord to the brain where connections with multiple higher level nerve cells allow us to become aware of movement. Diseases that affect any part of this pathway may result in abnormalities of proprioception.

Many types of CMT damage the myelin or axons or both of the peripheral nerves carrying these impulses. Thus, a condition such as CMT that damages peripheral nerves often impairs proprioception. The resulting abnormalities of proprioception become evident as problems with walking, balancing, hand coordination or manipulating objects. This can be particularly disabling when combined with the muscle weakness and bony abnormalities of the feet that often occur in CMT. The problems with balance, walking and coordination are particularly difficult in darkness or dim light because good vision helps to correct and overcome some of the problems with proprioception.

There are no cures for the proprioception difficulties. However, there are strategies that help to improve the problems. For example, always try to maintain adequate lighting and be especially careful in dim light or darkness. Have up-to-date appropriate correction of visual problems with glasses and lenses and have eye specialists diagnose and treat visual disorders such as cataracts.

Use canes and walkers when necessary. (Don't be embarrassed. They may prevent serious falls).

Be patient and perform functions slowly that require good coordination.

Use simple assistive devices for fine motor tasks such as buttoning, zipping, and eating if recommended by a specialist.

Watch out for steps, curbs and other uneven surfaces and, in your own home, keep floor covering flat, simple and not moveable.

Physical and occupational therapists are especially trained to help with these practical problems.

Fatigue

​CMT and fatigue: Why are we so tired?by Greg Carter, M.D.Skeletal muscle weakness and loss of sensation are the ultimate causes of the majority of clinical problems associated with CMT. Fatigue in CMT is likely multifactorial and due, in part, to impaired muscular activation. Other contributing factors include generalized deconditioning from immobility and imposed sedentary lifestyle. Besides diffuse muscle weakness, atrophy and fatigue, there is also a reduced functional exercise capacity. Although these are common problems in CMT they have not been well quantified. We did one limited study about 10 years ago. We took 12 adult subjects with CMT type I, and 10 subjects without CMT and measured pulmonary (breathing) function, including tidal volume (VT), respiratory rate (RR), minute ventilation (Ve), oxygen uptake (VO2), oxygen saturation (SaO2), carbon dioxide production (VCO2), inspiratory flow (VT/Vi), and heart rate (HR). We then administered the Lee Fatigue Scale, the Lareau Functional Status Scale, Borg Perceived Exertion Scale, and the Profile of Mood States (POMS) measured before and after unsupported arm exercise (UAE). Results showed fatigue was moderate to severe and functional state was reduced compared to subjects without CMT. This was true both before and after exercise, with significant increases in fatigue reported post exercise. Our findings indicated that people with CMT have elevated fatigue intensity and distress before and after exercise. Functional state is also much lower in CMT.

Pain, and occasionally, depression, can also contribute to fatigue or the sense thereof. Some reactive clinical depression is expected in CMT if there is significant loss of function. Good family, social, and religious support systems are helpful in this regard. Anti-depressant medicine should be considered since it may provide assistance with energy levels, mood-elevation, appetite stimulation and sleep. Aerobic exercise not only improves physical functioning but is beneficial in fighting depression and improving pain tolerance, two things that are critical in CMT. There have been few well-controlled studies looking at exercise induced strength gains in CMT. My colleague Dr. Dave Kilmer had CMT subjects do a 12 week moderate resistance (30% of maximum isometric force) exercise program which resulted in strength gains ranging from 4% to 20% without any notable deleterious effects. However, in the same population, a 12 week high resistance (training at the maximum weight a subject could lift 12 times) exercise program showed no further added beneficial effect compared to the moderate resistance program and there was evidence of overwork weakness in some of the subjects. The risk for overwork weakness is great in CMT and exercise should be prescribed cautiously and with a common sense approach. People with CMT should be advised not to exercise to exhaustion, which can produce more muscle damage and dysfunction. The warning signs of overwork weakness include feeling weaker rather than stronger within 30 minutes post exercise or excessive muscle soreness 24-48 hours following exercise. Other warning signs include severe muscle cramping, heaviness in the extremities, and prolonged shortness of breath. Nonetheless, gentle, low impact aerobic exercise like walking, swimming, and stationary bicycling will improve cardiovascular performance and increase muscle efficiency, and thus help fight fatigue.

Up until a few years ago, pain was not frequently characterized as a major component of CMT. However a study sponsored, and funded in part by CMT International, showed that the majority of people with CMT do experience significant pain. The pain is due largely to damaged nerves causing "neuropathic pain" (stinging, burning). However, immobility, which can cause adhesive capsulitis, mechanical back pain, and pressure areas on the skin also likely contribute. Chronic pain can be immensely fatiguing and it would be helpful for those with chronic pain to have it treated aggressively. Pharmacological management of pain in CMT includes the use of non-steroidal anti-inflammatory (NSAID) medication, particularly if there is evidence of active inflammatory process like tenosynovitis or arthritis. Regular dosing of acetaminophen (1000 mg every 6 hours) may be used along with an NSAID or alone if NSAIDs are not tolerated. Anti-depressants and anti-convulsants (neurontin) are particularly helpful for neuropathic pain. Narcotic medicine should also be considered for refractory pain. If narcotics have helped, then taking the total dose of immediate release (short acting) narcotic required to alleviate pain and giving half of that every 12 hours in a controlled-release preparation such as OxyContin may be helpful. (Medical marijuana with high CBD content also seems to help alleviate neuropathic pain L.C. 2017).

Proper equipment is crucial to maintaining energy. Braces (ankle-foot orthoses, etc) should fit well and be in good repair. Wheelchairs should have adequate lumbar support and good cushioning (gel-foam). The chair should be properly fitted (generally done by occupational therapist) to avoid pressure ulcers and inadequate support for the spine. Wheeled walkers (Gran Tour in particular) or quad (four point) canes may also help, depending on the pattern of weakness. Some may benefit from Canadian style forearm crutches to steady them. Other useful equipment includes hand-held showers, bathtub benches, to shower and toilet grab bars (Versa frame), raised toilet seat, automatic toileting device, hospital bed, commode chair, ADL aids (sock aid, grabbers, etc), and wheelchair ramps. An occupational therapist will help define which, if any, of these devices will be useful to the patient. They can also go over pacing and energy conservation techniques.

Respiratory failure occasionally will develop in CMT, due to weakness of the diaphragm, chest wall, and abdominal musculature. This is usually manifested by hypoventilation, which leads to elevated carbon dioxide levels in the blood. This will cause fatigue. A thorough review of systems by your physician will help define any problems. Patients that are hypoventilating will often complain of a morning headache, restlessness or nightmares, and poor quality sleep. This may cause daytime somnolence and fatigue. Dr. John Bach has shown significant success with the use of intermittent positive pressure ventilation by mouth (IPPV). This type of ventilation does not require a tracheostomy and may markedly improve quality of life. IPPV can be done easily in the home and should be considered in people with CMT and respiratory failure or sleep apnea. Patients may benefit initially from using IPPV mainly at night. (See also under the heading Breathing)

Note from Linda Crabtree: - Dr. Carter didn't mention grief. We can be constantly grieving for our physical losses mobility and grief can cause depression. Both grief and depression can cause fatigue. Grief counselling can often help get you back to a full happy life.

Stress can also make you very tired. Living with constant stress from family, stress in the workplace or just pressure to perform beyond your limits (like working two jobs) can take its toll. Constantly pushing ourselves to perform every day can mean that our bodies are always exhausted. Being exhausted all the time means we never give our nerves time to try to repair themselves and our muscles will atrophy as we push ourselves. Over time a pattern of prolonged abuse and overuse can see muscles permanently atrophied although they can atrophy with normal use as well.Nervous exhaustion can also take place. Some of us have exceptionally low tolerances to noise and odour, taste and touch as well as chemicals. Knowing what you cannot tolerate and avoiding it as much as possible will help you stay on an even keel. Knowing what makes you tired and learning to pace yourself is the key to living with CMT.

Five kids and a pound of hamburger by Joanne Wiklund, U.S.A.

One pound of hamburger, one onion, one clove garlic. Chop the onion, put one tablespoon of olive oil in skillet. Press the garlic into the oil, add the onion and brown. Take a large pan, fill half full with water and put it on to boil. Take two cans of Campbell's tomato soup, don't add the water!, open and add to the onion, etc. Add 1 tablespoon sugar, some basil, some oregano, and some celery salt, stir and simmer slowly.

Add to the boiling water a small package of angel hair pasta. Cook it about five or six minutes, drain and add it to the sauce. Mix it all up till pasta is covered. Serve on a plate sprinkled with parmesan cheese. The whole thing should take about 20 minutes tops. If you get tired of the angel hair, you take macaroni, and call it goulash. When you get tired of the goulash, you don't boil the pasta. Just put the sauce between two slices of whole wheat bread and call it Sloppy Joes. If you feel creative, you make meatballs out of the hamburger with some egg, cracker and milk. Brown the meatballs in the oil, garlic and onion, cover with the sauce, add a teaspoon of sweet pickle juice, spices and all, put in the oven and bake it for 35 or 40 minutes at 350 degrees. You can even make meatball sandwiches with it. I was raised on this. My mom had five kids and one pound of hamburger.You don't make quarter pounders that way! My children were raised on it. It is comfort food.

When it comes to housework, they told me I was allergic to house dust. I thought they said housework, so I don't do it! Seriously, the best thing you can do is to get someone else to run the sweeper. Vacuuming is the worst thing for me to do! Throws my back out every time. Pacing myself? What is that? Each year I am more convinced that I have to get some things done, time is running out. Yet each year I have been in the same place, doing the same things I said last year I don't want to do. So forget pacing myself. I am going to just enjoy today and not worry about tomorrow. It is scriptural: "The trouble today is sufficient thereof!" But most of all, today I must move something. My arm, my leg, my head, my feet, something must move. And I have to make myself move more and more all the time.

I'm retraining in mid-life due to fatigueby Ray Bauer, Canada

Fatigue or total exhaustion has been a problem for as long as I can remember. The best way I found to handle it is an afternoon snooze to recharge myself.

When I owned my own business it was not uncommon for me to go home in the early afternoon for a recharge period, but I would work longer into the evenings if needed.

I found a job cabinetmaking in September 2000. I knew in the back of my mind, and everyone else tried to tell me, this was a bad decision, but the bills were adding up and I needed cash.

Before long I was working an incredible 53 hours a week. It was impossible to keep up that pace and as time went on the hours became fewer due to my health.

On a typical day I would be up at 5 a.m. shower, shave, eat breakfast, make lunch, etc. and arrive at work by 7 a.m. Most days I would be standing on my feet for nine hours. With just a half hour lunch break and two 15 minute coffee breaks, the day took forever to end. When it did I rushed home, opened the door and collapsed on the couch for an hour or two before making something to eat. I was too pooped to wash the dishes or do any needed household chores. I didn't care for television, to read, to work on the computer, to phone friends or visit. I headed for bed.

While I was at work I fought every minute to keep on my feet, and I did, but I was totally exhausted.

Then along came Christmas. I slept and did whatever my body would allow. I had also developed another severe problem. I knew my knee was sore and every now and again I would get pain while working, but I had no idea that my knee joint had crumbled. I now must use a brace all of my waking hours.

No more cabinet- making as a trade -- my body tried to tell me not to do this work again. I had tried to ignore my CMT as much as possible, including the fatigue, so it decided to get me by making sure I can't be on my legs for extended periods of time.

I have not given up! I am now attending night school learning AutoCAD (computer aided drafting) and although at present I can still get my afternoon nap, the fatigue is still there. Plus now, because my mind has to think again - a process that has been idle for some time - I am also suffering from mental fatigue. By the time classes end I am more than enough tired.

I start work once again, very soon. I will be battling fatigue again but must persist. The first month will be difficult as I will still be attending evening classes. I hope I last; I must, and I hope the numbness and loss of sensation in my hands stays at bay.

I have come to the conclusion that to be awake is to be fatigued and I am double fatigued as diabetes also causes fatigue.

Feet/Legs

​The CMT footby Dr. Joan Dahmer

There are several reasons why CMT people have problems with their feet. Foot trouble can be uncomfortable and lead to other difficulties, so it is important to understand how CMT can affect the feet.

There are a number of ways that a person with CMT can develop skin problems on the feet. Our feet are not the same shape as most shoes. The unopposed action of certain less affected muscles of the foot (the long-flexors of the toes) causes the longitudinal arch to become exaggerated in most patients. This leads to three problems in particular:1) The top of the foot is more prominent and can rub against the shoe.2) Similarly, the top (or dorsal aspect) of the toes can rub against the top of the shoes, leading to blisters and even breakdown and infection of the skin.3) On the bottom of the foot, tough, hard skin (callous) tend to develop where the arch bones (the metatarsals) are unusually prominent.

Now, looking at the foot from another angle, another set of unopposed muscles (the tibialis group) causes, essentially, a tendency to toe-in. This means that the outer side of the foot can press against the side of the shoe. CMT feet that are uncommonly flat may have a tendency to toe-out and, as the metatarsals are flat, callous may develop on the inside of the arch area.

The CMT foot has a tendency to move inside the shoe while walking. This means that the sheer stress of movement adds to pressure in the trouble spots, increasing the tendency for skin to break down. Remember that a knife cuts much faster when it's moved back and forth.

In addition to problems arising from the shape of the foot and the way that it moves, there is another potential problem. In CMT there can be a variable decrease in the ability to feel in the affected areas. Now, in some people, this decrease may be minimal, and in fact, some CMT people have acute feelings in the affected areas but in others a decrease may lead, if not careful, to not recognizing areas of wear because of the inability to feel them. For this reason, it is important for people with CMT to pay attention to their feet, inspecting them on a regular basis.Consider now the way CMT people use their feet. Because the peroneal muscles, which turn the foot up and out, are weak, the foot has a tendency to turn down and in. This is called a drop foot. We tend to compensate for it by lifting the foot high so that the toe doesn't drag on the ground.

Another problem with CMT is that muscles have decreased tone; they are floppy and difficult to control. During the toe-off, the foot feels, and often is, very unsteady. To compensate for this unsteadiness, the person with CMT often hyperextends the knee for an instant to try to prevent the foot from going over.

Year after year of bending the knee during the swing phase, hyperextending it during the push-off and slapping of the foot as it strikes the ground leads to wear and tear of the ligaments, not just in the feet but sometimes also in the knees and hips.

As everyone with CMT knows, we have a tendency to turn over on our ankles. Why is this? The shape of our feet, with toeing-in, takes away some of the usual solid bony support which the ankle has. The foot and ankle bones don't rest on each other the way they normally do. We bear our weight on a smaller surface, making balance more difficult. When the foot starts to overturn, the muscles may be too weak to correct it and stop the fall. There may also be a slight decrease in sensation which causes a delay in making adjustments when the ankle is turning. The tendency for the toes to drag also increases the likelihood of falling. If you examine the heel of your shoe, you will probably find that the outside of it is worn down, throwing the weight even further over to the side and tending to turn the ankle. Also, year after year of stretching the ligaments which support the foot as we turn our ankles makes the ligaments themselves loose.

As you can see, there are quite a few reasons why a CMT person may have discomfort in his or her feet. We have a tendency to get blisters, callouses and skin breakdown, as well as aching from poorly fitted shoes which puts unusual pressure on the bones of thefeet. The metatarsals can hurt even in bare feet because they are bearing more of our weight than they were meant to. The imbalance of muscle groups can cause abnormal stresses on joints leading to pain as well as wear and tear over the years. This can be a vicious circle as wear and tear itself can lead to pain. Injury of muscles and ligaments in falls can lead to the kind of pain one gets with a sprained ankle. Ligaments can hurt for a long time after they are injured, and some people with CMT turn their ankles and pull ligaments almost every day.

The actual processes affecting the nerves are not generally believed to cause pain directly. Rather, pain is usually due to all the indirect things mentioned above. The situation is not, however, without hope. Although there is no cure for CMT yet, there are many things we can do to make life with it more bearable. Setting our priorities and pacing ourselves is important. So are properly fitting shoes; this includes a large toe-box that doesn't crowd the toes. Check your feet every night for possible trouble spots. Cover spots of worn skin early to prevent breakdown. I find it helpful not to wear the same shoes more than two days in a row to prevent wear in one place. When a heel has worn down on the outside, have it replaced. Wear sensible shoes without a high heel, as heels only make the ankle more unstable. Be careful when walking on an uneven surface...watch where you're going!

Orthotics can make a big (and happy) difference. An insole in the shoe can increase the area over which weight is borne and help to stabilize the foot. Metatarsal pads can be used to decrease the amount of weight that these bones bear and make the foot more comfortable. The sub-talar joint (or heel bone) can be stabilized with orthotics. A wedge on the outside of the shoe can make the shoe more stable. An insole or wedge can also make the shoe heavier, increasing the tendency for the toe to drag on the ground. Insoles can be purchased ready-make or custom-made by occupational therapists and those who make orthopedic boots for the public. Braces can be used to stabilize the foot when all the muscles become weak. Sometimes the knees need support also but fortunately not very often.

Surgical procedures, such as tendon transplants, are sometimes done on children. These procedures in which a strong tendon is moved over to replace a weak one are sometimes helpful. The transplanted tendon can also be affected by the disease, so it must be remembered that these procedures are not cures. Adults generally do not receive this procedure as it is not felt to be helpful at this age.

When toes become a big problem, they are sometimes operated on also. This can make it easier to find shoes that fit, and may alleviate a problem with skin breakdown, but may also change the way that the foot bears weight.

Occasionally, osteotomy (reshaping) of the heel bone or fusion of the foot joints are done. These procedures can be painful and do not change the course of the disease. They will not make you walk normally again, and they cannot be guaranteed to take away pain. They can, however, be useful when troublesome problems make walking difficult.

Keep in mind, too, that CMT doesn't prevent other foot problems such as athlete's foot, warts and other injuries. Pain or problems may be due to some other cause and shouldn't be shrugged off as "just my CMT." If you are having pain or increasing difficulty, you should see your doctor about it.(Dr. Dahmer has CMT)

​Young people and the plantar releaseby Dr. James C. Drennan

The older child and young adolescent who are experiencing unstable walking because of increasing foot deformity may be able to regain a better walk through a simple surgical procedure called a plantar release. It has been my experience that people aged eight to 14 who have CMT may benefit from this surgery which involves cutting the plantar fascia. Plantar refers to the bottom of the foot; fascia describes the inelastic fibrous tissue that coves the plantar muscles and extends from the heel to the toes. I'll show you in a diagram how the plantar fascia is cut to release the contracted plantar soft tissue. Some people experience a postoperative lengthening of one to two shoe sizes as the foot is permitted to become flatter and no longer has the exaggerated high arch.

This surgery is followed by a series of short-leg walking plaster casts, which may lead to further correction of the high arch. The person is allowed to put weight on the foot after the first cast change. Four weeks following surgery the patient is measured for a solid ankle-foot orthosis (AFO) which extends the entire length of the foot including the toes. The brace does no have a molded arch since the high medial arch was the deformity that required surgery correction. [foot]

The brace is initially worn both day and night to prevent recurrence and the person started on an active and active-resistive therapy exercise program for the peroneals (muscles that help you turn you foot outward - evert) and dorsiflexors (elevator) muscles. I would anticipate that the person will regain 30 to 40 degrees of active eversion within four to six months of therapy. Bracing requirements should decrease as the young person regains muscle function and strength. The original ankle-foot orthosis can be converted to a posterior leaf spring type and eventually a heel cup with a lateral wedge to assist in controlling movement of the heel turning inward can be utilized.

Charcot-Marie-Tooth is progressive and eventually the benefits from the surgery may be lost. However, the youngsters may have benefitted from improved walking during their most active years. It is worthwhile to obtain a single preoperative transverse CT scan of the midcalf (x-ray technique to assess the size and quality of the individual muscles) to determine the current condition of the peroneal and dorsiflexor muscles before considering this limited surgical and rehabilitation approach.

Healing foot ulcers (Dec. 2001)

Linda here: We have received the magazine Current Pedorthics for years and the last one has an article that really hit home. There are always several people with CMT fighting terrible foot ulcers and Ernesto Castro, C. Ped. working in Mesa, Arizona has written an article on a case describing a 56-year-old diabetic male who, after a six hour scuba diving excursion, found that sand had gotten into his scuba boot and worked like sandpaper on his foot. A full thickness foot ulcer was located on the plantar aspect of his foot which we know as the ball. The patient is a surgeon with a heavy case-load who must remain on his feet for 12 to 16 hours a day so the conventional bed rest and non-weight bearing, etc. wouldn’t be appropriate.

Plaster was used to make a cast of the foot and from that a lightweight German Nora material called Luna was made into a simple SolarMed healing shoe. Instead of fighting the foot like a conventional shoe, it almost became part of the foot and fit like a sock therefore eliminating all rotational shearing. The healing took seven months and other cases have taken from six weeks to eight months to heal. A shoe and orthotics are used afterwards to further help the foot.

The foot was saved from an amputation and it was still fine more than three years later. [foot ulcers]

Because space does not allow me to print the entire article I urge anyone with foot ulcers to go to Pedorthics to access the complete article or to get in touch with Mr. Castro at 480-461-1940. We’ll have more ideas from Mr. Castro in a future issue. His website is Custom Footwear.

Feet, Ankles and Toes Q & A

Q: Mildred Spickler would like to know if anyone has such sore foot soles that they can't walk on them.Dr. Joan Dahmer points out that our feet often move in our shoes. The cutting action of anything rough can damage the skin on our feet and callouses which form to protect a pressure point are a common and often painful problem.Several readers said that they soak their feet and remove callouses with a pumice stone, available at any drugstore. Dr. Scholl's has a large line of foot care products. "Once the callouses are removed," writes Nancy Covent, "the cracks heal more easily. Nancy uses gel from the aloe plant to help her cracked callouses heal and also mentions antibiotic ointment. She says that keeping the callouses filed down helps prevent cracking. Another reader mentioned "The Foot Salon" by Clairol, which is a thermostatically controlled foot bath. It not only sounds good for softening callouses but heavenly for cold, tired feet.Nancy Pinko writes that she has had success healing dry, cracked, painful callouses on feet with loss of sensitivity by using Dreft detergent with Borax. She soaks her foot 10 to 15 minutes, once a day, two or three days in a row and finds the cracks are healed. She says her orthopedic surgeon told her about this when her son developed infection after foot surgery. Go slowly with this or any treatment, and don't forget that this is not a doctor speaking but other CMT people. We want to pass helpful hints on to you but advise that you use common sense and caution when treating yourself. All home remedies are tried at your own risk.Another hint is to check your feet often, especially if you have a loss of sensation. It is so easy to step on something and damage the tissue which results in an infection before you know it. From what you've told us, and from personal experience, CMT feet heal very slowly and an infection is best avoided. It seems many readers cannot bear to walk barefooted as the slightest stone, ridge or bump will cause severe pain. Some, however, prefer bare feet and, due to loss of feeling, their feet can't feel what is underfoot. These are the people who should definitely check their feet at least once a day for slivers, blisters or other wounds. One reader was prescribed vitamin B6 (check the drug list and other warnings about vit. B6) for soles and feet so sore she couldn't walk, and several mentioned that insoles made to alleviate particular pressure problems helped a great deal.Sponge insoles may help. Wearing cushion-foot socks and never wearing soiled or sweat-soaked socks also helps. Nylons do not absorb sweat and some have a seam under the foot which irritates. Socks can make a difference, especially absorbent ones not made of synthetic materials.Q: I can't bear to have my toenails clipped it hurts so much. Why?A: Dr. Lowell Williams answers: Sensation in CMT feet is not always less than normal; it may be MORE than normal! There are some CMT patients who cannot walk on sand because the grains hurt them so much; maybe you have a similar problem. Cutting toenails moves the nail around a bit; the sensation that is normally not pain is MAGNIFIED to pain by the abnormal conduction of CMT nerves. It may be that because your body knows it is feeling less it takes anyinformation it gets (like the toenail being moved a little) and rushes it to your brain just in case it might be bad for you. Try soaking your feet in warm water before cutting and try to relaxwhile doing it.Q: My feet are so cold in the winter inside or out of the house that they actually hurt. Why?A: Dr. Lowell Williams answers: Studies now under way at Columbus, Ohio, show that the blood vessels of CMT feet are not responding normally to temperature. Normally the blood vessels close down to prevent heat loss when exposed to cold. In some CMT people they dothe opposite causing more heat loss; in other CMT people they close down too long so that there is a lack of circulation. It could be either of these in your feet. If too much heat is lost, the coldwill be painfully freezing some skin cells; if the blood vessels clamp down too long, the lack of oxygen from poor circulation will cause pain. Q: I have been using a wheelchair during the day for my work now for several years because I fall so often that I'm afraid to stand to work. Recently I've been experiencing much pain and swelling in my feet and ankles. The swelling really has me worried. I walk a bit around the house but it is getting more difficult to stand. The doctors I've seen have no answers for me. One suggested support hose but that doesn't seem to be the answer. What should I do? Why are my feet and legs swelling? Have you ever seen or heard of anything like this?A: Dr. Lowell Williams answers: Swelling of the feet and ankles can come from circulatory problems of those areas or possibly may be due to other body disorders. If your doctor has checked out your heart, blood pressure and kidney functions and found them to be alright, swelling may be due to poor local circulation. Both support hose and exercise may help improve the blood flow to lessen fluid leaking out of the blood vessels. Sometimes a prescription for water pills or medicine to cause diuresis may help. Keeping your feet elevated while in your chair may help. Although it is not common in CMT, some CMT people have this problem. We are hoping tostudy the nerve's control of CMT circulation to understand this complication.Q: I had a fall nearly four months ago and injured my ankle. X-rays showed no broken bones. Verdict - torn ligaments. However, the ankle continued to be very painful and second X-rays looked at by a specialist caused his comment..."lack of calcium" and "nothing can be done." Have you had experience with this?A: Dr. Robert Sampson answers: The pain which one suffers from a chronic sprain of the ankle can be severe and long-lived. Depending on the nature of the injury and upon the health of the person who sustained it, it is not unusual for a sprained ankle to be painful for six to nine months. I think people are frequently lulled into a false sense of security when they are told that they "just have a sprained ankle." Quite often that means that things should be well in a few days but this is not always the situation. A person who suffers the discomfort of a chronically sprained ankle, in my opinion, should be treated with an air stirrup or similar type of ankle brace for up to a year after the original injury. Occasionally, the use of anti-inflammatory medication, such as Ibuprofen which is available over the counter in the United States (and Canada), is also helpful. Another thing that we have found helpful here is that on rare occasions injection into the painful ligament of a cortisone/local anesthetic combination may be of some help.If your discomfort persists, even after the above measures, then one must consider that there may have been an injury to the bone which did not show early on. There are some rare conditions that show up six to nine months later, and repeat X-rays should be taken. At the same time, I would advise that a "stress X-ray" be taken to make sure that the ligaments have not been damaged beyond the point of normal healing. If this were the situation, further remedies, such as a surgical procedure or prolonged casting, might be necessary.The comment "lack of calcium" is a difficult one to analyze. It probably doesn't have a lot to do with the sprained ankle at all.It may be that you have some osteoporosis of the bones, but even that wouldn't affect the healing of the ankle sprain. It could, however, mask a small crack or fracture in the bone, and a repeat X-ray might be necessary.​Gastrointestinal

Gastrointestinal concerns

People with CMT often experience reflux, (a backing up of the acid in the stomach into the esophagus and sometime the mouth), diarrhea and constipation but then so do millions of people without CMT.

No one has ever done research on CMT and gastrointestinal problems so no one knows if CMT actually adds to the gastrointestinal problems we experience.

Some research on gastrointestinal problems and CMT would be welcome by many. This Web site could help anyone in the scientific community get started by posting a survey here and those with gastrointestinal problems and CMT could fill it out. Until then, most of us treat our reflux, diarrhea and constipation by seeing our doctor and using prescribed or over the counter remedies.

Over the years several people with CMT have talked to us about diarrhea, especially in children, so severe that the child failed to thrive. Whether this was or was not resolved is not known but we haven't heard of any child dying from diarrhea connected to CMT. Please know it is not common.Genetics

For an extensive list of all of the types of CMT go to http://neuromuscular.wustl.edu/time/hmsn.html (2017)

​Genetic CounselorsThere is a society in the USA called the National Society of Genetic Counselors and they have a North America listing of genetic counselors that you can search by state, province, city or name.

​Testing of Children Without Symptoms and Prenatal Diagnosis (1995)

(This article was valid in 1995. A great deal of work and many research advancements have taken place since then but it will give you an idea of what is involved in testing and some of it still holds true.) The onset of CMT is often in adolescence, allowing a period of time during childhood when those at risk are free of symptoms. With the discovery of DNA mutations in CMT 1A and X1, it is possible to do presymptomatic testing for young children. Parents may be curious to know their children's genetic status and wish to facilitate planning for the future of the child. Is there really and advantage for the child? There is currently no known treatment which might prevent or delay the onset of CMT.

Presymptomatic testing could be disadvantageous for the child through alteration in the relationship with the parent, or brothers and sisters, a tendency to label the child as disabled before symptoms ever occur, and a negative impact on the self-esteem of the developing child.

The DNA test cannot predict which symptoms will occur at the onset of CMT, the severity of symptoms over the course of a lifetime, or which symptoms the individual will manifest. DNA testing could negatively impact the child through discrimination in education and physical activity. There are also issues of insurance discrimination. Another issue to consider is request for DNA testing related to adoption. Both adoption agencies and adoptive parents might want to know the DNA status of a child. Such testing might not be in the best interest of the child who could be harmed by being more difficult to place.

The ethical implications of prenatal diagnosis are particularly complex and controversial. It is theoretically possible to do prenatal testing using amniocentesis to determine whether or not a fetus will be affected with CMT 1A, although we know of no commercial laboratory doing the CMT 1A 17p duplication test for prenatal diagnosis. However, such testing would have limitations similar to those listed for presymptomatic testing. The test cannot predict the onset, severity, or nature of symptoms. There is no particular benefit for knowing prenatally whether or not a child will be born with CMT. It does not change treatment of that child at birth or predict any known symptoms in the newborn. The purpose of prenatal testing is to enable termination of pregnancy if the fetus is known to be affected. This is not a consideration for most families because CMT does not cause early death, mental retardation, seizures, blindness, or congenital malformations. The severity of symptoms can vary greatly within families and, obviously, persons with CMT can live highly productive and satisfying lives. Sorting through these many issues can be difficult and stressful. Families considering the option of prenatal diagnosis should be provided with detailed genetic counselling.Additional Reading:Bird TD, Bennett RL. Why do DNA testing? Practical and ethical implications of new neurologic tests. Ann Neurol 1995; 38:141-6.Dyck PJ, Chance P, et al. Hereditary motor and sensory neuropathies. In: Dyck PJ and Thomas PK eds. Peripheral Neuropathy, 3ed ed. WB Saunders, 1993: 1094-1116.Thompson MW, McInnes RR, Willard HF, eds. Genetics in Medicine. Fifth ed. WB Saunders, 1991.Comments by LindaProfessional ethics do not allow the author to name the company that does the blood tests for CMT Types 1A, X1 and HNPP. The company is Athena Diagnostics, Four Biotech Park, 377 Plantation St., Worcester, MA 01605, U.S.A. Tel: (508)756-2886, (1-800-394-4493 in U.S. or Fax (508)735-5601. I'm going to finish this article with the item we had on genetic testing in the August 1995 CMT Newsletter so you'll have everything all together. Athena Diagnostics, Inc. (formerly Genica Pharmaceuticals Corp.) has announced that when your doctor sends a test in to them to diagnose CMT1A the test will be upgraded to include the new CMTX test, unless otherwise indicated. The CMTX we are talking about here is the form of CMT whereby males cannot transmit the disease to their sons but only to their daughters; however, males can get it from their mothers. In general, males with CMTX have a more severe manifestation than their affected female relatives.

The entire test offered by Athena is called the CMT1 Evaluation Profile and I'll give you some of the information the way Athena has written it.

"Distinguishing between CMT1A and CMTX based on clinical and family history or nerve conduction velocities (NCV) results alone is often extremely difficult. Complicating the clinical diagnosis further is the high rate of affected female carriers of the CMTX mutations, thus the CMTX family pedigrees often do not demonstrate a X-linked transmission pattern (i.e., no male-to-male transmission of the disease). CMTX should be considered in all families without male-to-male transmission of the disease or when CMT1A has not already been molecularly diagnosed. The CMT1 Evaluation Profile is particularly valuable for differentiating between these most common types of CMT1.

"If a CMT1A duplication is detected, a report is generated and the test is billed at $425. If the test is negative, Athena will perform the CMTX analysis and the complete profile will cost $770 U.S."

All of this doesn't mean you can't fall through the cracks. Researchers are still finding other types of CMT on other genes. While the CMT1A and CMTX tests will provide information about the most common causes of CMT, negative CMT1A or CMTX tests do not rule out the possibility that you may have another type of CMT.

The best candidates for the CMT1 Profile analysis are: 1) people who have chronic idiopathic demyelinating peripheral neuropathy, regardless of family history. 2) people with slow progressive atrophy of the distal muscles detectable as early as the first decade but often so mild as to be medically insignificant by the patient until early adulthood. Ninety-seven per cent of the people show clinical symptoms by age 27. 3) people with severely slowed motor nerve conduction velocity (NCV) of less than 41 m/sec. Reduced NCV may be noted several years before clinical symptoms can be detected.

Not everyone has a family history of CMT and just 65% of those in the research had a history of it which says to me that many of the people who tell me they have no history, so it can't be CMT, might benefit from these tests.

To date, there have been some 25 individual mutations identified which means if your test doesn't come up CMT1A or CMTX positive you could have another type of CMT that a test hasn't been developed for or a new type altogether.

If you want to find out more, ask your doctor to call Athena and ask for specific information such as how many tubes of blood are required and what size, etc., or you can call yourself but a doctor has to draw the blood for you and ensure it is shipped correctly.Our thanks to Hillary Lipe and Dr. Thomas Bird as well as Barbara Learner at Athena Diagnostics for helping CMT International bring you this information on the genetics of CMT and testing as of this December 1995 printing.

Grieving

Dealing with griefby Linda Crabtreewith notes from many sources

Spiritual or Faith

Personal faith is frequently a major source of comfort during a period of grieving. For some, however, maintaining faith may be difficult as it may seem that we have been betrayed or have nothing to be thankful or hopeful about. Either reaction may occur, and both are consistent with later spiritual growth. Talk to someone about your feelings -–your spouse, a spiritual leader or a friend. There are passages in The Bible and many books on the subject that can help.

Psychological

There is no set time limit for grieving. It varies from person to person, depending on individual circumstances. When you have CMT those around you might not even notice that you have lost some bodily function and that loss is affecting you profoundly. While you may feel pressured to put on a brave front, it is important to make your needs and feelings known by telling those you trust what has happened and how you feel about it. Everyone wants to be liked and most of us would like to be loved. Some people seem to place value on a person who doesn't talk about problems or even mention that something is ailing them. People like this can make you feel as though it is not permitted to grieve or to talk out your problems. You must give yourself permission to grieve. You are still likeable and still loveable even though you are grieving especially to those who are hurting for you BECAUSE they love you. You may not be the star around the house or at work, but a true friend will want to share a problem, not be thankful that you didn't bring the subject up. Everyone needs some help – don't be afraid to ask for it or to accept it.

Social

Friends and family are often most available early in a diagnosis and less so later. It is important to be able to reach out to them when you need them. Don't wait for them to guess that you need to talk or could perhaps have gotten worse and need a little extra help. They will often guess incorrectly and too late. An example of this is friends who have often asked you over to share a meal and you have always returned the invitation. As your CMT gets worse you find climbing the steps to their home increasingly difficult and you can no longer use their bathroom which is upstairs, so you must go home earlier than you would like. Instead of expecting them to guess the reason for your early departures or declining their invitation, talk it over with everyone concerned and chances are a solution can be found that will please everyone. Best of all they will feel even closer to you because you were brave enough to share your problems with them.

Not everyone understands a disability and some people are still wary of one especially something called Charcot-Marie-Tooth disease. The first thing they do when they hear the name is look you straight in the teeth. Be brave and patient enough to tell them a tiny bit about it. Do not avoid social contacts because of the imperfections in those you meet.

Sometimes, in an effort to stop the pain of grieving, people turn towards trying to regain what they've lost or to make up for it in some other way too soon. Find out what you can do with what you have left before you try to get back into what you did before, as trying to regain lost function can make the CMT worse overall. It is hard to evaluate new activities objectively if you are still actively grieving, and this kind of solution may only lead to other problems and possible injury. You'll be trying so hard to prove to yourself and everyone else that you can still do as much as you once did that you could really exhaust yourself. Moderation and pacing is the key for people with CMT.

Try to make clear to children that sadness and curiosity are perfectly normal. Neither has to be hidden. Lost function for which you grieve can also take away functions that made you closer to your child, e.g. being able to lift and hold or carry him, being able to toss and retrieve a ball, to tie his shoes or fix her hair in pigtails or bows. The child notices the difference and should be told that it isn't anything he/she did, it is something that is wrong with mommy's hands and we'll try doing it differently instead of the old way which is not longer possible. It is important that periods of happiness are enjoyed and that having fun is never interfered with by the disability. There are always ways around something, you just have to work a bit harder to find them.

Physical

It is easy to neglect yourself because you don't much care at a time of grief and find your body more of an enemy than a friend. Try to eat reasonably even if it is difficult and the eating process reminds you that your hands aren't working as well as they once were. Look into support systems and contact an occupational therapist (OT) if you think there must be something out there that could help you do the function you've lost but you simply don't know where to look. An OT will know. If you've lost some of your walking ability don't give up walking altogether -- walk less or fewer blocks. See if a cane helps, but make sure you get professional advice on the right height of cane, right handle, grip on the floor and how to hold it. All of these facts mean a great deal when you start using a cane. Try an adult-size three-wheel bicycle (they can be a lot of fun) or look at purchasing an electric scooter. You still need to get out, you still need to interact socially with people. Just because you can't walk doesn't mean everything else has to stop.

If people urge you to see you doctor, do so, even if it doesn't make sense to you at the time. You could be showing signs of deep depression that you don't even know are happening but are being picked up by those very close to you.

Economic

Avoid hasty decisions. Try not to make major life decisions like selling a two-storey home or moving to a warmer climate just because you've had a reduction of function. Give yourself time to first try to adjust to the new loss and then, if everything points to a move or a new home or new car being what will really help, do it, but make sure you've figured out everything you can about your loss and know what you can and can't do.

Millions of dollars every year are wasted on orthotics, assistive devices and other aids for daily living because people who are newly grieving reach out for help and buy something they feel will help instead of know will help. A great deal of money is also spent when people don't give themselves enough time to think things out carefully. If money is no object then sure, go ahead and try things but for most of us, a major change means a lot of money, time and stress.

In general, most people find it best to remain as they were, grieve a loss, learn to accept it, find out all they can and then go for help to restore lost function. That help could also mean a change. Major decisions can often make things worse but they can also sometimes make things so much better you can't believe you ever waited so long to make the change. Consider your future and what you want to do calmly with your mind and your heart but mostly with calm rational thought. Your life isn't over because you can't walk much anymore or because your thumbs won't work or you can no longer hold a cup. Necessity being the mother of invention we have some very sophisticated bracing available as well as canes, wheelchairs and electric scooters.

Aids for daily living, or ADLs as they are called by professionals, are a multi-million dollar business in North America. If you need it, chances are it's out there, you just have to find it. As for holding a cup, I can think of 20 varieties of cup handles available and don't forget the good old-fashioned straw. A lot of good people with CMT manage pretty well without walking much and/or without the use of our thumbs but you have to find all of this out for yourself. Give yourself time and don't be afraid to seek good advice. Usually it is wise to get more than one professional opinion before making decisions.

Hope

You'll notice that the first item mentioned in this article was spiritual or faith. Faith, hope and charity are healers. You have to have hope. Hope that someday research will find out more about CMT and will perhaps be able to stop it, if not in our children's children, then in further generations to come. We have to have hope in a world that seems to be saying to those of us who have disabilities, "Come on out and join the rest of us," as we make everyday life a little easier through better science, better health care and better accessibility.

We have to hope that, "the powers that be," will listen when we tell them that what we are feeling isn't what we are told is happening. We have to pray for open minds. We can't sit by and just let people tell us or do for us because we find ourselves with a disability, we must dive into the fray and try to do our part by promoting awareness and working towards better understanding. You'd be surprised how many, including those in the health profession, think you are totally helpless and cannot comprehend basic science just because you can't walk. We've got to change those notions for everyone who is disabled.

Charity

Charity begins at home. It really does. If you look after yourself and treat yourself well, you then have the reserves to go out and help others. Charity doesn't have to be in the form of money, It can be time spent helping, advice given when requested or experience shared with someone who hasn't learned what you have in a lifetime but knows something you don't know. We learn from everything we do and often when we are grieving, helping those out who seem to us less fortunate than ourselves actually lets us see that because of their attitudes they are more fortunate than we are. Being at peace with ourselves is really what it is all about. If we can learn to accept what we have, live with it well and then go on to help others, we are truly doing what we were meant to do on this earth, disability or not.

Grief and coping in Charcot-Marie-Tooth diseaseby Patsy Levy, M.S.W.

For many people with Charcot-Marie-Tooth disease, the final diagnosis usually follows a process of a long period of physical symptoms, medical visits and tests, accompanied at the same time by slow deterioration of bodily functioning.

Tossed into a sea of anxious questioning, rocked by waves of uncertainty, people with CMT find themselves floundering in an emotional quagmire leading to grief and depression. Phrases such as progressive disease, chronic illness, functional atrophy and hereditary illness create mental images that play across the mind bringing fear, anger, denial and possible disorientation towards a body that has temporarily become a foreign vessel bearing an inner vision of an altered self-reflection.

Being ill is more than having a disease. It is a physical reality that has been created for oneself instead of by oneself, and is thus accompanied by various psychological facts.

The discovery of CMT causes initial crisis leading to varying degrees of emotional upset. Loss of bodily functioning is, in other words, a loss of self. As such, symbolically it involves the loss of a loved object. Concretely in most cases, this has meant the deterioration of the feet and legs of the person who has CMT, a physical and psychological means of mobility, and the person's hands, a physical and symbolic means of caring for oneself and for others. With the news of no cure and the possibility of further complications depending on the progression and severity of the effects of the disease, persons can find themselves in mourning for what has been taken away from them, for an injured self-image, for changes in life goals and existing relationships with others. Usually effective coping skills may suddenly fail or become exhausted in the struggle to adapt to a changed reality with as yet unknown ramifications.

CMT people can experience shock and perhaps denial in the belief that they are ill with a chronic, progressive disease and that the physical results of the illness are permanent. Anger, disorientation, crying, anxiety attacks accompanied by efforts to explain and rationalize what has befallen the person are often expressions of the internal pain of grief being experienced. Many are confronting for the first time with the fact that their bodies have disease and are facing the issue of their own mortality. Chronic grief is a natural chronic emotional response to chronic illness.

Over and Over AgainBecause of this, renewed grief can be triggered by a new progression in the disease, by the painful necessity of possible major life changes due to physical inability, and/or by the regression of relationships with significant others due to the increase of tensions and strains maximized by the illness. Even seemingly simple events such as a doctor's casual or impersonal approach to giving treatment, or the glances or verbal reactions of others to a resulting apparent handicap can produce a kaleidoscopic array of depressive feelings. In fact, living in a society that values physical beauty and functioning, career achievement, and efficient coping skills, personal goals and ambitions are often thrown out of balance by illness, creating a trampoline effect of raised feelings of helplessness, overriding anxiety, anger, and at times inestimable sadness.

Society, too, also has formal rituals for grief involving the loss of a loved one. Public sympathy and support spring forth giving comfort to the bereaved. Tolerance of emotional outbursts are accepted and encouragement is given with the acknowledgement that after a period of adjustment life continues.

This, however, is not exactly the case with chronically ill CMT people. There is no formalized ritual for the loss of body function or other effects of the disease. Mourning also has no recognizable end point in CMT but instead there are periods of inactivity mixed with periods of renewed bouts of depression. Support from others may be limited or sporadic, with possible demonstrations of unawareness and seeming insensitivity to the additional psychological pressures and energy it takes for patients to recruit optimum functioning physically and emotionally. They have perhaps taken for granted the freedom of health with which they can function and make choices regarding their everyday lives and future that the chronically ill do not have in quite the same way when facing the reality of a progressive disease.

In fact, a characteristic of CMT is the uncertainty of when, how or to what degree the illness's internal time clock will slow to a rest or speed up the dysfunction. CMT people as a result often feel frustration in learning how to judge the responses of their bodies, how to manage their activities and how to absorb the emotional pain that comes when their bodies fail them.

The complicating factor of CMT being a genetically hereditary disease may also bring with it a burden of guilt for the person with CMT, for other family members who suffer from the disease and a wrestle of conscience of whether or not to have children by prospective parents with CMT. In addition, often well-meaning outsiders are unable to empathize with these issues in conveying their value orientation towards the subject. In the end, persons with CMT must judge for themselves the possible consequences of dealing with a generally hereditary illness while at the same time attempting to make an educated, constructive decision that will leave them with the least emotional baggage necessary to carry around afterwards.

Dealing with CMT involves placing an emphasis on the quality of one's life rather than experiencing frustration concerning the quantity of one's life – quantity meaning in terms of how many accomplishments and ambitions one can achieve within a certain amount of time. CMT people may discover themselves feeling panic and/or restlessness, planning and making life decisions at a much faster rate than they would have ordinarily.

In attempting to assert control over one's reality, instead of pressure being relieved rather the opposite may occur with patients finding themselves under even more tension than before. Fears regarding deterioration and an inability to meet one's needs and desires can create even higher levels of anxiety. For many, activity itself is a sign of being alive. A progressively ill person's basic need for self-validation and self-esteem, although shaken by emotional anxieties, can be formulated into positive actions through the awareness that one must redefine and seek accomplishable goals that can restore self-image and recompensate for lost functioning. Influential in terms of judging self-worth, the work ethic of the surrounding society is usually strong and is considered to be an emotional basic necessity regarding expectations of ourselves and in meeting the expectations of others in order to gain acceptance at home and a work. However, curiously enough, because these are not simple tasks nor are the issues involved easy ones, it is sometimes better for CMT people to slow down their decision making in order to afford themselves the time and patience necessary to cope as successfully as possible in redefining lifestyles and goals. In other words, sometimes by letting go, people can have more control not less over themselves and their lives.

Of course, the situation varies from individual to individual and is especially affected by the severity of the illness and effectiveness of the treatment being received.

People in general, through trial and error, discover successful and unsuccessful coping modes which best help themselves. It is important to become aware of one's limits emotionally between situations and thinking that proved to be sensitive and painful areas and others that are more productive in terms of an emphasis on what one can do, not on what one can't do. Often such variables as age, sex and social situation are additionally influential. For example, adults may grieve more because of their fear of independence on others leading to a loss of certain activities.

With children and adolescents, it may be the worry of social unacceptance by their peer group or by being different from the other kids. A simple query of "How are you?" followed by the usual response of "I'm fine," may seem like a contradiction of terms to a "well" person who views a CMT patient moving past with obvious mobility problems. These are examples of emotional obstacles which many people with CMT must overcome and be re-evaluated in new terms by CMT people to themselves and by those closest to them. Lack of inner reconciliation to these situations can cause even more active efforts at "okayness" or passive avoidance of the issues altogether by ignoring medical follow-ups or by not making use of supportive therapy opportunities.

How much is in your mind?An important aspect of chronic illness is to be able to differentiate intellectually between being "ill" on a physical level and being "crippled" on an emotional one. In this instance, the grieving process can be an actual help, providing the means for an eventual psychological healing outcome. As a natural human process, it allows people with CMT time for a natural and legitimate response to being chronically ill. Metaphorically, it can be compared to falling to the bottom of an emotional bucket, being mired in depression, until with great emotional energy recruiting old and new coping skills to climb back out to a reattained equilibrium. Depending on the severity and the permanency of the original triggering conditions, each new slide into a grief reaction and the time it takes for emotional resolution is a time-consuming activity that can last from days to months or longer. During these periods, often illness takes on a more dominant aspect coloring the person's self-image, his relationships to others and in fulfilling everyday tasks.

Often at that point relationships that are already strained between family members may break down entirely with those closest to the ill person. While some families respond by growing stronger and more unified in adversity, for others, facing the possibility of a long continuance of a progressive illness, life within the family sphere may alter so radically that all other roles which the person once had may disappear or be replaced by other members. This can develop into an unhealthy depressive situation whereby the ill person's only role is one of being ill and the family's main task becomes one of accommodation to that fact.

In reality, people bring themselves into CMT. They bring with them a history of prior coping skills and personalities which were either operating in positive or negative ways before the onset of the illness. With many people, it is the illness itself which brings a major emotional and spiritual crisis in functioning. With others, the onset of illness can further complicate a poor self-image, adjustments and relationship problems. However, people also carry with them pre-existent strengths into the experience of illness. Many have already faced other obstacles in their lives, the tools of which may help them to overcome the initial adjustment trauma to CMT. One's innate qualities, although seemingly temporarily immobile from shock, anger and depression, have not disappeared. Instead, they may reappear dependent on the individual's choice and motivation to serve him as a means to grow and develop inwardly to become even stronger.

In general, regarding family relationships, a person's former roles, although perhaps submerged at critical times, also do not vanish with illness. The children of a CMT parent will still look to that parent for guidance as a role model, learning all the while tools for the future when they and their children may be confronted with serious illness.

Coping with illness is often a life lesson that is passed down between generations. Married couples also, where one partner has CMT, will seek for the most part to preserve and re-balance their interacting roles in terms of individual and mutual needs and functioning. This can, however, prove to be a rocky process involving feelings of helplessness and grieving by both parties. This can be a painful and stressful time for both, especially if the effects of the illness are seen as threatening dependency issues between the couple. In extreme cases, the result could be divorce and/or desertion. For another couple, a positive resolution could be increased enrichment, closeness, and understanding of each other and of themselves.

How can I help?Many people with CMT, while feeling injured and in mourning, have difficulty not only in accepting and loving themselves but through their depression and anger at what has happened to them may not believe that anyone else could possibly love them or care for them either. Furthermore, the "well" partner, may feel overwhelmed, experiencing rejection, guilt, and anger in face of the CMT partner's own self struggle, possible withdrawal and emotional outbursts. It is a normal human chain of reaction for couples to fall into when coping with illness. No one is born knowing automatically how to cope with chronic illness, nor are people raised or taught, for the most part, how to deal with the obstacles that illness causes. And yet, couples often express expectations of each other to know what to do and how to respond. While one or both are feeling unsteady and insecure with the situation, each may be seeking reassurance from the other. In actuality, both partners will need emotional space to absorb and negotiate what has occurred. Communication, patience and mutual support are very important at a time when both partners are most probably experiencing the crisis together and apart. But the CMT partner may be so subjectively involved in dealing with being ill that he or she may have very little energy to be able to deal with others during this period. How to adjust to this possibility often depends on what strengths existed in the marital relationship before the illness, what levels of tolerance exist between the couple, how effective each partner's coping skills are, and to what extent they are able to keep their functional roles intact.

One day at a timeThe element of time, of just living from day to day, does play a small part in eventual adaptation to illness. In the simplest terms, even most hospitalized patients become involved in and adjusted to daily hospital routine. This does not preclude CMT persons' grieving, but it is indicative of the small steps that are needed to be taken just to start the coping process. Metaphorically, we can ask the question, "How does one eat an apple? Bite by bite," and so patients deal with illness, day by day.

It is very probable that most people with CMT go through the grieving process alone. Because of the illness's chronic character, lifelong management techniques need to be developed concordant with the severity and frequency of the illness's progression in preparation for recurrent periods of depression. For purposes of emotional survival, CMT people must learn to build psychological "corners" that are effective in diffusing the depression and are time limited in content. It is desirable that people with CMT become aware of when they are being emotionally affected by their illness along with a recognition of the ensuing depression. At that point, self-discipline will need to be employed in order to pick an appropriate time and place for the expression of the grieving to allow for functioning on other levels in the meantime.

A time and place to grieveThis could perhaps be during the night's silence when self-reflection occupies one's thought. If the depression is momentarily overwhelming, a written list of sources of satisfaction and meaningfulness may be an important reminder that the illness is not the only thing there is to being a human being. Getting up and changing one's activity or focus to someone or something else can be a positive means of shifting emotional concentration. Do not underestimate the importance and value of people using and experiencing themselves as instruments for interaction, and therefore, self-validation. It is not an easy task. However, CMT people can make a conscious choice for life by taking steps to balance out the periods of darkness.

On a larger scale, living with CMT also involves a process of re-evaluation of personal goals. Grand ambitions for accomplishment in the near or far future may either suddenly and painfully become irrelevant because of physical disability or be moved up on an advanced timetable. As was mentioned previously, illness often narrows a person's perspective to what can be achieved on a day by day basis. In some patients' cases, the progressive severity of the illness may increasingly emphasize the small moments of one's life; the warmth of interaction of being with a loved one or friend, or the accomplishment of a simple activity within one's home Living for today can have a cumulative effect, yielding moments of psychological rest and fulfilment. As a result, contacts with others should be re-evaluated in terms of their meaningfulness and worthwhileness for each individual and acted on.

How a person with CMT involves himself actively is particularly important when it comes to being a participant in one's own medical treatment. It is essential that people with CMT feel a sense of control and input over what is happening to them. On a factual basis, it is necessary for them to know what their exact condition is presently, including a prognosis for the future. It is the patient's right to know. However, often people must learn to be their own best advocate in getting their needs clarified and their questions answered. Sometimes this may come in conflict with the image of being a "good" patient, but often bureaucratic medical systems, including doctors themselves, become inundated, either unable or unwilling to respond to patients on a human level.

Here are some concrete suggestions:1. The night before a doctor's visit, the person with CMT and their family should list any relevant questions. Doctors often don't inquire into the concrete requirements of patients' everyday living within the home or on the job. As a result, doctors may be unaware or unable to clarify patients' and families' functional expectations. The written list will not only serve as a tool to structure the communication between patient and doctor but will also enable the patient to have some control, particularly if he is feeling anxious.

2. Don't allow yourself to become lost in medical lingo. Many doctors are so accustomed to speaking and thinking in medical terms that they are either unaware of or ignore the patient's inability to understand what is being said. Request that your doctor give an explanation in language that you can understand or, to make it conceptually easier, ask your doctor to sketch a rough diagram of what he is talking about.

3. Remember to pay attention to the implications of treatment and prognosis, particularly in regards to life decisions that you should perhaps be making now rather than later. Consider the effects it may have on other members of your family or on your work environment.

4. When faced with a medical procedure that is causing you anxiety, ask for details regarding the conditions under which it will be given and be clear in your own mind concerning its purpose. Medical procedures can induce high levels of anxiety leaving patients feeling more like helpless victims than active participants. This will give you a chance to prepare yourself emotionally for what lies ahead including tools that might help you at the time of the test: i.e. relaxation techniques during painful and/or difficult procedures.

5. Be sure to take responsibility for finding out about follow-up appointments. Initiate consultation with your doctor in exploring various modes of possible supportive therapy: i.e. maintenance exercises prescribed through physical therapy for muscles which have not yet showed signs of atrophy and are compensating for muscles that are no longer functioning. Some doctors are unaware concerning the broader picture that may lay outside of their area of specialty. People with CMT should always be concerned with measures that can affect optimum daily functioning including referrals for appropriate intervention.

6. Be assertive. It is a sign of realistic acceptance of who you are and that you are still functioning. This is especially important for CMT people who are bedridden and/or hospitalized. Your interaction with others, including medical personnel, is important for you. Remember that although you may no longer have much control over your physical self you, and only you, hold your emotional and spiritual self in your hands.

7. Finally, if you feel you cannot bear the chronic grieving and its accompanying spells of depression alone seek out others who are willing to help you. Besides friends and family, it may mean checking professional and medical resources including your church or synagogue, self-help groups, and counselling professionals. Having CMT entitles you to being a human being in need of support like everyone else.

In conclusion, people with CMT have a long road to travel. But, although their bodies may slowly fail along the way, with the proper emotional and psychological tools, it is possible for them to and their families to continue to function and survive a full life.

I and both of my brothers have CMT, inherited from our mother. I went to the local MD clinic with my niece, Diane, her mother (my sister-in-law) and her grandmother (my mother). Diane is getting married, so we thought it would be a good idea for her to have an EMG (electromyogram) and genetic counselling. To me it was an outing, a reason to do lunch, since in my mind Diane had escaped from CMT. I was little prepared for those fateful words when, not five minutes into the EMG, the doctor said: "Yes, Diane, you do have it." I felt as if I'd been physically punched, yet my emotions were quite numb (consciously to protect Diane and unconsciously to protect myself). I was so very shocked, yet unemotional. There had been signs of CMT. Diane could not roller skate, jump or run fast. She had pain and cramping. Last year, she was no longer able to wear high heels. Somehow, I shut these facts out or ignored what they really meant. I heard myself saying things like, research will soon have a cure and Diane will have a mild case. I minimized everything and reassured Diane all over the place.

I'm not insensitive to the fact that my niece is the primary person here. She, her mother, her father (my brother) and her grandmother are in a sense more important than me. They will each experience their own grief process. But, since I cannot speak for them, I am reporting my own reactions.

To hear that my beloved 20-year-old niece, whose life is just beginning, has CMT caused me to feel great pain for her. I feel this because even if CMT turns out to be mild, she'll have some kind of symptoms. She'll at least worry about it and make decisions that take it into account. It may affect her career (which requires physical strength). She'll have to rethink her wish to have children. I hurt for her, too, because of the limits she already has (now that I've faced them). Old feelings of grief for myself were also reactivated for a short time. I've been thinking about how I would do anything to spare my niece pain or struggle. If I could, I'd choose that I get worse instead of her. This astounds me. This is how mothers feel for their children. I'm probably feeling a fraction of what a mother feels, yet it worries me, and it also hurts beyond all description.

I saw both of my nieces a lot while they were growing up. I feel guilt in looking back at times when I complained and whined about my feet hurting or about how I hated wearing weird shoes. What kind of a model had I been for Diane? I felt guilty, too, for remembering how I'd sent her to a counsellor when she had anxiety symptoms, because I was thinking she had family and other personal problems instead of picking up on her hints that she was having CMT symptoms and she was scared.

Since that day I've cried, sobbed, talked, expressed fears, guilt and loads of anger to family, friends, husband and therapist. These feelings I experienced weren't clearly and neatly packaged and presented. They came and went. They were often jumbled and mixed up with one another. I know there is more to come, but I feel much better and far more hopeful. Now I have room for the hope and energy to be there should Diane ever need me.

The major stages of the grief process were shown in the true story of my niece being diagnosed with CMT. To learn that you or a loved one has an illness is a loss. There is a natural grief process that follows from any loss. A loss can be anything you had which you now don't have or something you wanted or needed that you didn't get. This doesn't mean only material things. Anything that brings a change (even a good one) is a loss and causes grief. The change can be big or small, good or bad, chosen or imposed, partial or complete, temporary or permanent. If the loss is small, the process is just shorter and less intense. But, a series of even small losses can accumulate. And, present-day loss can trigger feelings and reactions from past losses even if the actual memory of the past event isn't there.

Often, people don't define a loss as such and don't even know they are grieving. Since people need to make sense of what they experience and since feelings must be acknowledged and expressed out loud in order for us to feel better, it would be helpful to know about the grief process. There is much more to this process and it takes much longer than most people realize. It includes feelings, behaviors and actual stages. The feelings stay in us until expressed and they get expressed indirectly if not dealt with directly. These various stages are not clear and distinct. They can overlap and one stage can repeat itself until it is resolved, that is until it is expressed enough and the person lets go of it and perhaps replaces what is lost in some way. True, each one of us has some personal style of grieving and we each have things that have meaning only to us, but there are certain behaviors and feelings that happen to most grieving people.

There are many more reactions than the famous five stages of grief listed by Elisabeth Kubler-Ross in her studies of dying patients. But, since these are brief and can be applied to any loss, I will mention and then add to them. They are: shock and denial, bargaining, anger, depression and acceptance.

When a loss occurs, we don't quite believe it. For example, in spite of my niece having clear and classic symptoms, I denied that she had CMT. The thing about the denial stage of grief is that it really works. At first, a loss is just too much to take in. This can last a long time or return at certain times (as when, just for a second, we think we see a friend who has died). We fight the fact that we have lost, will lose, or are losing something. In fact, we have an actual biological drive, or compulsion to get back whatever it is. If it is not possible, this drive may be expressed or acted out by pacing and agitation or in compulsive behaviors. Examples would be driving by the house of your ex-lover or calling him/her even when the relationship is clearly over, or getting endless opinions following a negative medical report. Everyone wants a second chance or better deal. This is part of bargaining and what one writer calls Searching Behavior.

When we begin to see the loss as true or when it actually hits us as real, we are distressed and hurt. Crying is a biological necessity as are expressions of anger. In grieving major losses, we regress for at time and must lean on others. Other feelings that occur are those of guilt, shame, regret, worry, anxiety and loss of self-esteem. These feelings don't always have to be rational or make sense. At times, we also become depressed. There is very little emotion or zest for living or interest in anything during these periods. We just feel empty and slowed down during this depression stage. Eventually, we consistently face the fact that loss is true, and we have completed the feeling and behavioral work, and we begin to rebuild our lives in ways that are necessary so as to live without whatever we have lost. We make substitutes and regain energy for things suspended during the grief process. We can now move on.

Now that we have discussed the grieving process in general, let's apply it to CMT. What if the loss is ongoing, intermittent and/or chronic as in degenerative illness? With CMT, we live with threatened possible loss or our losses are often so gradual that they're hard to pinpoint. There is a loss each and every time a change occurs, so we must go through the grief process each time. Living with threatened or limbo (not here yet) losses is extremely difficult. It causes a great deal of stress. A loss may be hard to recognize until something happens to point out to us that things have changed. Every autobiography in our newsletter mentions things one used to do that can't be done anymore. Anytime we have physical pain or limits, anger is the natural result. The anger stage in grieving is crucial to adaptation and acceptance of illness. And this anger must be expressed intensely, out loud and even in a physical way at some point.

Now, what resources help us to do this grieving? How we and our families respond to a disease like CMT is as important as the diagnosis and symptoms themselves. A person can be in chronic denial or can minimize so that they make unrealistic decisions or spend a lot of energy trying to hide their limits. Or one can turn the illness into an obsession and not only limit themselves too much but also avoid other important issues in their lives blaming everything on CMT. Either minimizing or making too much of an illness is due to avoiding the grief process that has been described here. Anything can be accepted and lived with if it is grieved.

When a family member has an illness, the whole family is affected by it. A family can avoid the realities and reactions concerning the illness or can deal with them in an open supportive atmosphere. How lucky are those who can talk about having CMT when they wish to do so but who are also encouraged to be independent!

There is a great deal of difference between true acceptance and bitter resignation. True acceptance occurs when the stages of grief are fully dealt with. The rewards following grieving are profound and real. We have grown, we have learned a great deal, and we are better, richer, more mature and interesting people. We adapt. We accept. We never lose hope but we can move on with our lives. Such a loss can also bring families closer together.

I know my niece, newly diagnosed with CMT, will be okay because she has the resources (inside and out) to grieve any loss that may occur.

After grief comes acceptanceby Linda Crabtree

"I'm just so darn mad," the woman said over the telephone that cold March morning. "I can't do the things I used to do, my hands won't work right, I fall and trip, and this morning I dropped a whole pot of hot coffee on the new rug. I tell you, Linda, I sat down there and then and cried like a baby. I couldn't help it, it made me so mad.""Hey," I said, "you are grieving and very frustrated right now with yourself.""Grieving?" she said, "You mean like mourning? I'm not in mourning, I'm mad.""Right, and being angry is part of grieving.""It is?" she said."It is," I said.And then we went on to discuss how she felt about everything in her life at that time, and in about 45 minutes the odd chuckle was tipping into our conversation and I knew she'd be okay.

Just a refresher; the steps to grieving -- and I've added a few -- are: shock, denial, anger, bargaining, frustration, depression and finally acceptance. We don't necessarily go through all of them every time we experience a loss nor do we finish grieving each time. We can fluctuate between denial and acceptance, or nay of the stages, back and forth, for the longest time but in the end acceptance will come for most of us. I'll write about these steps as I've experienced them and helped you go through them during the past 17 years.

SHOCK - "The doctor just told me I have this thing, Marie-Tooth (most people don't get the name right from their doctor the first time, they are so shocked that finally someone has put a name on their problem and a lot of people would never ask a doctor to write something down for them) and I have to have everything you have on it, right now, I'll pay anything, I have to know right now what it's going to do to me." Whoa, slow down a bit. First off, you are in shock, your perfect body is as you have suspected for some time…less than perfect. Now someone has put a name on what you have and you can't believe that YOU REALLY HAVE SOMETHING!

It was almost better when you couldn't put a name to it because you could put it away for awhile and forget it and say, it was all in your mind.

NOW YOU KNOW and it is real and you are in SHOCK. Some of you want to find out everything you can, so you call or write me. The questions are all the same ones that prompted me to start CMT International when my denial finally turned from black to shades of grey. What is it? What does if affect? Will it kill me? Will it hurt my children? How did I get it? Is there anything I can do? Will it get worse? Will it affect my life? Will it affect my sex life? Is there a cure? Is there treatment? Are they working on a cure? And on and on and on. Some people go into denial immediately.

DENIAL - "No way, it can't be that disease with the weird name, it just can't be. I was the one that wasn't going to get it in the family. I'm 33, everyone around me in the family who had it were showing signs by the time they were 12. The doctors are wrong, I know they are. I mean WHY ME? Just because I told them there was CMT in the family, they are saying I have it too and really I have something else. Is there anything else like CMT but not CMT?"Sure, it's always possible that you have something else. But, if you have to have a neuromuscular disorder, CMT isn't the worst thing you could be diagnosed with. Try Friedreich's Ataxia, or ALS on for size. You'll come back to CMT every time. Also a person can have one or more genetic diseases at the same time. Just because you have CMT doesn't mean you can't have something else, genetic or not, on top of the CMT.People who are in denial are not reading the newsletter, not helping themselves, not working with their family to put support systems in place and some are most likely pretty miserable and not too great to be around. People who are looking for answers and trying to be their own experts are reading the newsletter and have developed a support system around them by helping others understand what is happening to their body and how they can be helped if they should need help.

BARGAINING - "I swear I'll give up smoking if I could only just find out that this thing really isn't what they say it is! I'll never take Your name in vain ever again if You will just tell me God, please, that I don't have this thing." We know them all, all the bargaining ploys we use to try to spirit away something we don't want. Bargaining doesn't work because we are bargaining with ourselves and usually trying to trade away something we shouldn't be doing in the first place.

ANGER - When most of us reach the anger stage we are so angry at ourselves for having "this thing" and for being the way we are that we not only get sick of ourselves but are pretty hard to live with as well. We take our anger out on ourselves by telling ourselves that we are no longer any good for anything, by feeling sorry for our newfound state of being or in many cases by trying to prove that we are just fine and can keep up with anyone doing anything. This reaction to a disability can lead to what I call the SUPER PERSON syndrome. I know all about it, I fluctuate from the "rest and take care of myself" mode to the "super person" mode about twice a year. I know I'm doing it, I also know why I do it. I know it wears me out but it also makes me feel useful, alive and competent. I suppose I'm validating my self-worth.

When I am in my "stop, regroup and take care of myself" mode, I heal. The trouble I have is that my "super person" mode makes a lot of work for my "stop and take care of myself" mode and sometimes there simply isn't enough time for rest and restore. It is then that I find myself sick, depressed and grieving for what I think I've lost. If I take more time out and develop a balance of work and take care time, I can maintain and stay out of the grieving mode for a long time. I prefer work over any other mode but I know I must force myself to stop, rest and regroup or there won't be any work. Many of the SUPER MOMS out there should listen to what I've just said. You are cheating yourselves and your families out of a lot of the good things in life by trying to be all things to all people.

I know I had a disability and I knew the name and diagnosis by the time I was 19. I "kept on keeping on" through operations and education and work and marriage until I was 35, when I had to stop work because as a reporter I'd shake hands with a person I'd just interviewed and turn to go and promptly fall down the stairs. Not exactly what my paper wanted to see in one of their employees. I could no longer work all day, every day on a computer, my hands were going. I'd trip over telephone cords in the office that everyone knew were there but ignored. I'd get so tired by 2 p.m. that I'd almost be asleep at my computer trying to edit my part of the next day's paper.

DEPRESSION - I had always wanted to be a professional artist, exhibiting and selling my work. Slowly I had built up a roster of one-woman shows. I'd had two pretty successful ones and had three more lined up when I took a long-term disability pension from the newspaper and finally had to accept that I was becoming too disabled to actually do the work I loved so much.

For weeks I just sat. I had recently married for the second time and my new husband didn't know what to do with me. I blamed myself, my mother, everyone and everything. I couldn't live with myself and everyone else found me pretty hard to take as well. I tried to smash my hands on the glass fronts of my closet doors and only succeeded in bruising them so badly I could hardly move them. To me those hands were the cause of all of my problems, especially my inability to carry on with my painting. Deep down inside I knew no one thing or person was to blame. CMT is just one of those things that some of us are born with but at that time there were times I wish I hadn't been born. I remember saying good-bye to the green trees, the grass and the birds in my back garden. I made lists on my computer as to whom should get what in my list of possessions and found I really didn't care what happened to the things I owned, I just wanted to be gone. I was slipping into the next stage, depression and I was clearly suicidal. The only problem was, I didn't know about the stages of grieving. I thought I was alone in all of this and that it had never happened to anyone else, only me. For some reason I had to go through this hell, and it was hell.

ACCEPTANCE - My family doctor realized that I wasn't my old self and sent me packing to an $80 an hour (back in the early '80's) psychiatrist located about an hour and a half from us. The psychiatrist admitted he didn't know beans about CMT but he did know about grieving and gently, except for a few foundation-rocking screams of absolute frustration, he guided me through my deep depression and out the other side to see that I was worth something, that I could still do many things and that there were many people around me who loved and cared for me. He helped ME care for ME. That was the hard part. I actually had to put mirrors up around the house so I could see ME. I had ignored ME for so long I felt as though I really didn't exist. I was something that I thought no one could see and someone I couldn't see. I simply wasn't there, my denial had been so strong for so long. I finally realized that MY CMT (when I began referring to it as MY CMT I knew I'd be okay) was only a small part of me and I really had an excuse for a darn good fresh start, if I wanted it.

It was at this time that I rediscovered my God. I was baptized and raised an Anglican but as soon as I took my first communion at 13 I left the church only to return for a wedding of a friend or a funeral. I simply didn't believe in a church that had about 20 steps up the front and a doctrine that didn't seem to apply to me. Besides, Sunday mornings were the only time I really had to sleep in and I praised God for those delicious hours of extra sleep every time I rolled over.

But something had changed. I had wanted to take my life and I was so thankful that I had been shown that I was worthwhile and that life was good that I began to feel that God had truly helped me through that terrible six months or so of suicidal depression. I felt that I had been VERY ill and was coming out into the sun for the first time in a long time. I registered at the local university to begin to find out more about what I had just been through. I wanted a degree in psychology. I didn't know it then but I was RETRAINING IN MID-LIFE. Life started to look and feel good. I started to look into those mirrors and smile. The next summer with one tremor-inducing, first ever university course behind me I began the search for others who have CMT to see if you had experienced the same thing I had. I found hundreds of you, thanks to my newspaper experience. One day, I opened a letter and a small card fluttered to the floor. I can't find it now but it was torn and frayed from being attached to my daybooks for about five years. It read something like, "I sought my soul but my soul I could not see, I sought my spirit but my spirit evaded me, I searched for my brother and I found all three."

This little verse touched me so deeply that it gave me renewed vigor and enthusiasm to keep going, to keep finding CMT people and finally, out of necessity, CMT International and the CMT Newsletter were born. I was sent that verse in 1984 and a year later someone sent me the verse Footprints. I do believe now that in thinking God had forsaken me when I was so depressed and suicidal, He was, in fact, carrying me to help and letting me see a side of life that I had to experience before I could do what I need to do now. Some of you may think this is corny or wishful thinking. I don't mind what anyone thinks anymore. I know I've been through hell and I made it. Whatever it was, it got me here and I choose to think that for a short while there I truly had The Lord with me when I needed Him the most.

I'm not a deeply religious person but I am now a spiritual person and when I have a real worry or problems I often pray for guidance and do what I've seen on bumper stickers, "Let Go and Let God." I don't think I could have accomplished what I have during the last years if I hadn't had the feeling that God is with me on this.

A professor at the State University of Buffalo at New York told us once in class that most people who have disabilities either become a vegetable…totally dependent, go nuts trying to find a cure, go to religion or become an expert. I feel that each person's religious beliefs are up to the individual. It does hurt me though to see a person waiting for God to heal them when they could be putting their support systems in place so that they can help themselves and others too. This, in my mind, is a waste of life force. However, we can all become experts and that's what I've tried to help all of us do through the CMT Newsletter. Helping you, helps me, too.

Sure I still grieve. When you have a disability like CMT that gets worse in spurts or so gradually that all of a sudden you notice something that in fact has been getting worse for years, you grieve. The denial comes back, the anger, and you shed a few tears for yourself and what you've lost. Talk it over with your spouse or a friend, and hopefully get on with life until the next time you lose something. I always said that I didn't mind what I lost really as long as I have my eyes, my ears, and my voice. On March 1, 1991 while returning from a meeting in Florida, I lost my voice. After four months the diagnoses of laryngitis, a too dry mouth and you don't know how to speak correctly, have proven false, and a new diagnosis of a partially paralyzed vocal cord has begun to fit. This isn't going to go away! I grieve my lost voice, sure I do. Some mornings I wake up and forget it's gone and then with my first gravelly, "Good morning" to my husband, it all comes back to me. But, like my husband says, "Why not?" I don't even know if it's part of my CMT or not; I'll probably never know.

When you have CMT grieving can occur over and over again with each loss but we can learn with each time that, indeed, we will live through it and come out a better person with more understanding, empathy and compassion than we had before. I was even fitted with a nifty microphone like Madonna wears when she's singing, my own battery pack and amplifier so I could continue to speak at meetings and to groups. And, after many years, I've begun painting again and am enjoying it more than ever before.

We do gain when we lose and I don't mean gadgets or assistive devices. Our gain just doesn't show until we have to draw on the very depths of ourselves for strength.

Some very good books have crossed my desk in the years I've been working with you. I'll list the ones I think will help you come to terms with your grief and help you to accept your CMT if you or someone else in your family is going through the grieving process. References:Cousins, Norman. Anatomy Of An Illness. Toronto, Bantam, 1979.Cousins, Norman, Human Options. New York, W.W. Norton, 1981.Hodgkinson, Neville. Will To Be Well: The Real Alternative Medicine. London, Rider, 1984.Locke, Steven and Colligan, Douglas. The Healer Within: The New Medicine of Mind and Body. New York, Mentor, 1986.Siegel, Bernie S. Love, Medicine and Miracles. New York, Harper & Row, 1986.Simonton, O. Carl. Getting Well Again. New York, Bantam, 1978.Simonton, Stephanie. The Healing Family; The Simonton Approach For Families Facing Illness. New York, Bantam, 1984.

Hands/Arms

Why So Cold?Does poor autonomic nervous system control of blood vessels contribute to symptoms in Charcot-Marie-Tooth disease? by Lowell L. Williams, M.D.

Many patients with Charcot-Marie-Tooth syndrome (CMT) complain that their symptoms are worse in winter, that the cold weather bothers them more than their friends or mates. Although this comment is common, surprisingly few studies have addressed the nervous control of CMT blood vessels in a scientific manner. We describe here some pilot studies carried out in Columbus, OH, with donations from CMT International U.S.A., in which we are finding that CMT patients have a variety of problems during cold temperature.

In all individuals, blood pressure and blood flow through blood vessels are maintained by a special portion of the nervous system called "autonomic" since usually it is not under conscious control. It would be a tremendous nuisance to have to remember to keep one's heart beating! In addition, movements, such as sudden standing or lying down, require a complex adjustment of blood vessels to compensate for the differences in gravity pull and limb position. To keep blood pressure within bounds and blood flowing successfully to all parts of the body, there are receptors (a form of meter) in key spots in major blood vessels. These receptors monitor the rate of flow and the amount of oxygen in the blood. A series of messages are sent through co-ordinating centers in the brain directly to the blood vessels for dilatation (widening) or constriction (narrowing) to keep flow consistent. Through this nerve network, messages are also sent to organs, such as the adrenal gland, that make additional substances affecting the vessel size to add or detract from the immediate response of the direct nerve reactions. Remember that relaxing or dilating blood vessels lower the blood pressure by creating a bigger space, while constricting them increases the blood pressure or "resistance" to blood flow since there is a smaller space. This is a very complex arrangement with many nervous system and serum components that are difficult to understand and study. There have to be many "back-up controls" to allow for flexibility during possible emergencies, such as a sudden blood loss, a sudden change in temperature, sudden or prolonged exercise and movement, etc. Understanding whether this system is functioning well in CMT could be important in treatment of symptoms.

The overall ability of this complex system can be measured by producing a stressful situation. Placing the hand or foot in ice water for a period of time is a useful stress test. Before beginning, a large number of normal persons matched for age and sex must be tested to measure the normal or adequate response. Then the patient group is tested and the results compared. When the patient group findings are different, a conclusion can be drawn that a portion of the autonomic nervous system is at fault. It is then necessary to do further tests to examine each of the parts of the system separately to find out exactly where the problem lies.

We describe here our initial steps to test autonomic nervous function in CMT. We examined 21 adult patients (17 different families) who were known to have CMT (average age of 47) and 53 persons without CMT (average age 42) equally distributed by sexes. The test began with a period of 10 minutes of quiet in a room of constant temperature during which a history of symptoms was taken. Then the heart rate, pulse pressure, skin temperature and pulsatile oxygen concentration were measured in each volunteer participant. Data was recorded from the middle digit of the right hand using non-invasive methods (the Nellcor Pulse Oximeter and temperature sensor). Cold stress was then performed using the Cold Pressor Test. In this test, the entire right hand is submerged in an ice bath (temperature 12C) for 60 seconds. The amount of discomfort from the ice bath is estimated by the individual. The above measurements are repeated at the end of immersion and then again in 10, 20 and 30 minutes after cold. During that time, we do not allow attempts to warm the hand or increase circulation (by shaking, etc.).

We found that CMT responses usually were different from normals in one or more of the measurements. After cold, the average oxygen saturation value of CMT patients was significantly below that of normals for a least 20 minutes (p 0.002). This suggests that the blood oxygen was not getting into the CMT finger tissues as rapidly, possibly explaining the increased bluish discoloration of CMT hands in cold. CMT finger pulse pressure also was greater than normal at 10 minutes after cold. This suggests a vasodilatation in CMT blood vessels in an attempt to counteract the effects of cold.This amount of cold stress usually slows the heart rate in normal persons. In CMT, about one half lacked this reflex slowing of the heart, suggesting defects in the overall nervous network communication or special efforts to correct the problems with cold. In fact, we found that the CMT average heart rate was faster than age-matched normals at every time period (p 0.002). It is true that heart problems have not been directly associated with the CMT syndrome. Therefore, the fast CMT heart rate may represent more awareness of the stress of the test in CMT or possibly poor network control. More studies need to be done on this aspect of CMT autonomic function.

It is interesting that pain perception in the cold hand was less in CMT patients than others. This result might be expected from the loss of "feeling" in CMT hands. Of course, lowered CMT sensation can lead to a danger of over-chilling when the person does not recognize that his/her limb is too cold and doesn't take measures to correct it. Despite this problem, CMT hand skin temperature returned to pre-test levels almost as rapidly as the normal group. In contrast, circulation in feet may be another story. In the few CMT feet we have tested, there was a marked difference from normals both in feeling the cold temperature and in recovery afterward. This important portion of the study is just under way.

Our results agreed with previous studies showing some peripheral and central autonomic nervous system defects in CMT. In particular, we extended the observations of Charcot himself who considered that mottled bluish extremities represented a degree of altered blood vessel control in CMT. It is not yet known just how CMT circulation problems are related to the nervous control of the blood vessels in the hands and feet and how we can use this information to help and treat CMT patients. We hope to continue our studies to find these answers.

Watching the slow deterioration of the muscles, especially of my right hand, was frightening. I worried about losing my career working with people who are visually impaired because they depend so much on touch. I did adapt to some activities. For example, at 35, I could not use nail scissors but, with practise, I learned to slide the scissors low on my index finger and use this finger for control.

After attending the CMT International conference in Vancouver in 1991 and listening to Dr. Patterson, I considered hand surgery. CMT International kindly advertised my desire to hear from others who had hand surgery, and after hearing from three others, I decided to go ahead in spite of discouragement from a neurologist. He was concerned about compression damage to the nerves because of a tourniquet which would be necessary on the upper arm to control bleeding during surgery. Such a tourniquet was used during the operation (for 67 minutes).

The plastic surgeon I saw had done many operations designed to restore opposition between the thumb and forefinger (opponensplasty) but had no experience with CMT. I dreamed of being able to do up buttons on my shirt, turn a key with ease, etc. The literature I received from CMT International told me that the loss of strength occurs within the first five to seven years of upper extremity involvement. After that there seems to be a tendency toward stabilization. I was past the five to seven year period and hoped that my hand strength was stable.

The plastic surgeon explained that a tendon would be transferred from my middle finger, rerouted through my wrist and attached to the thumb. He listened carefully to my concerns about prolonged casting and anesthesia.

This operation was day surgery. The anesthesiologist insisted on a general but used propofol and assured me that this drug was more expensive so not generally used but that it was well tolerated. In fact, I recovered easily from the anesthetic and had no side effects. I suggest that anyone with CMT talk to the surgeon about this drug. I was just as happy not to have to be awake and the surgeon was definitely happier.

My hand was put in a plaster cast up to my elbow. I was advised to keep it elevated. After ten days, this was replaced by a removable plastic cast. I was told to keep the wrist flexed at about 30 degrees since there would be danger to the tendon if it was straightened. It was a huge relief to be rid of the weight of plaster and to be able to take the cast off in the hot weather. I used it for about four weeks.

The cast kept all my fingers flexed, and after a few days, I noticed that the donor finger was healing in a bent position. The surgeon was away on vacation but I took the chance of ripping the stitches open to straighten the finger. Unfortunately, keeping the finger bent in the splint still allowed the finger to heal bent. It had been the only finger I could straighten independently before surgery. The finger would have been worse if I had not tried to straighten it but I was nervous, with no proper advice, so was not persistent enough. No amount of physiotherapy after healing helped me to straighten that finger after surgery and it is still flexed. However, this is better than frozen straight. I have been advised to leave well enough alone, though not by a plastic surgeon.

My dream of doing buttons without a hook was never realized.

Although I can bring index finger and thumb together, they remain too weak to pinch hard enough. However, I can pick up a glass or larger item more easily with the right hand, and I think function is improved.

Would I advise someone else to take the risks of surgery. I think they need to look within themselves, talk to their hands, and decide. By risking the operation, I felt that I had done all that I could do to help myself. My self-esteem improved and I have greater self acceptance. This allows me to take risks with my hands. I have lost the shame that used to haunt me when others watched my hands working, and I ask for help if I need it. This change in attitude has improved my life immeasurably. I am grateful to the surgeon and his compassionate treatment and would only suggest that anyone considering surgery check on the doctor's vacation times!

Night splints and quality of lifeby Linda Crabtree

It doesn't matter how many types of orthotics you use to help yourself, at one time or another, they may all seem too much and that's when we have to have the courage to say no more.

According to your letters many of us have trouble uncurling our fingers, especially after a night's sleep. Some of us would like to prevent our fingers from curling. We've found a person with CMT who has used a flat hand and finger splint to keep her fingers and hands straight while she sleeps.

Did it work? "Yes," said Shirley Laliberte of St. Catharines. "They worked but I don't use them as much now since I've had to use a continuous position airways pressure respirator or a CPAP at night while I sleep to help improve my breathing. I found, too, that there was an ache in my hands every morning because they were held in an unnatural (for us) position for so long. That was the only problem with them although my hand that is already curled hasn't improved much. The hand that hasn't already curled hopefully won't. I try to alternate the breathing apparatus and the hand splints nightly but both can just be too much." [splints]

We agree, there's such a thing as quality of life to be considered when using bracing and splinting.

I remember when I was a young girl of 14. I wore heavy metal braces and big brown leather boots. I hated them. The day also arrived when I needed prescription glasses. My well meaning aunt told me how nice my glasses looked and I ran bawling up the stairs. The glasses were the last straw. I could tolerate the braces if everything else was okay but add the glasses to them and it was all just too much. The same thing goes for the hand splints and the respirator, you have to give yourself room to say, enough is enough.

This also applies to children who perhaps don't have a say, but are told they must use this and that device to help them cope. If you don't ask your child exactly how he feels about it all, you'll never know. The things you are piling on to "help him better cope" may be breaking his spirit. When enough is enough is up to the individual using the appliances not the rehabilitation counselor, the doctor or occupational therapist. Saying no is everyone's prerogative and it should be respected.

Shirley knew when to say enough is enough and she doesn't always use her hand night splints any more. Her respirator performs a much more important function. However, if you think night hand splints might help, take this article to a good orthotist and talk about it. If he/she is worth his salt you'll be fixed up in no time. Also you might try taking a few minutes to lie in bed, upon waking, with your hands under your head, fingers uncurled, and let the weight of your head hold your hands open for a few minutes. This might be all you need if the tendons aren't too strong and not too much force is needed.

Each of the Charcot-Marie-Tooth (CMT) disorders is characterized by varying degrees of degeneration of peripheral nerve axons. In CMT type I, the primary pathology is degeneration of the myelin sheath but later there is associated axonal degeneration. In CMT type II the disorder directly affects the axon, resulting in primary axonal degeneration. Peripheral nerve axons are relatively simple structures whose function is to transmit electrical impulses to and from the brain; motor nerves transmit impulses from the brain to muscles while sensory nerves transmit impulses from the skin and other body tissues back to the brain.

When nerves degenerate, those parts farthest from the brain almost always are the first to be affected. Thus, symptoms usually begin in the feet and spread up the legs to about the level of the knees and then begin to involve the hands and spread up the arms in a similar fashion. It is very unusual for the nerves to the body or the face and scalp to be involved to any great extent. Deviation from this pattern is very rare in CMT disorders other than hereditary neuropathy with liability to pressure palsies (HNPP), a condition I will discuss separately.

Involvement of motor nerves predominates in all CMT disorders, resulting in weakness and muscle atrophy (wasting). Involvement of sensory nerves is ubiquitous and yet sensory symptoms are not as prominent. However, some degree of loss of sensation can always be found on careful examination in CMT patients. It is only rarely disabling but it can be very annoying. Other symptoms that result from sensory nerve involvement include paresthesias (tingling), pain and loss of balance. The latter particularly occurs in the dark or when the eyes are closed.

It is not clear why sensory symptoms are so minor in CMT patients. It may be that since the sensory loss evolves so slowly, over years or decades, in some patients the brain learns to ignore the symptom. The brain also has the capacity to amplify signals received from the peripheral nerves so that if any signal is received, no matter how small, a sensation may be felt and any sensory loss will be inapparent to the patient but can be found on careful examination. In many patients the numbness is worse in the hands than in the feet. This is probably because the hands are normally more sensitive and we feel any sensory loss more acutely. Even in those patients who complain more of their hands, neurological examination will show a greater degree of sensory loss in the feet. Nor is it clear why sensory symptoms are so variable with some patients having very annoying symptoms while others are completely unaware of sensory involvement.

Sensory loss appears to be more severe when the axons degenerate and therefore may occur earlier and be more prominent in CMT type II. In CMT type I the earliest abnormality is slowing in the speed of conduction and yet the signal may still eventually reach the brain and be amplified so sensation is relatively normal. Later, as the associated axonal degeneration occurs, the sensory loss may become more obvious.HNPP differs from other CMT disorders in that it is characterized both by acute episodes of demyelination and by a more slowly progressive degeneration of peripheral nerve axons. HNPP patients frequently complain of episodic numbness and tingling, lasting from minutes to several days. These episodes are usually precipitated by minor trauma to the nerve such as compression or stretching. In more severe episodes, the sensory symptoms are associated with weakness but sensory symptoms usually predominate. These symptoms may occur in any part of the body, head or limbs. By contrast, the slowly evolving degeneration of the nerves that also occurs in HNPP patients is more like the other CMT disorders in that it begins in the feet and mainly produces symptoms of weakness although sensory loss can always be found on examination. This lends support to the idea that sensory symptoms are, at least in part, dependent on the pace at which they develop.

Linda here - Not everyone experiences numbness. Some people can have numbness and movement loss together, some just loss of movement and no numbness.

Hand PainParaffin dipFrom Tammi Brott, MI, USA. I wanted to share something that's really helped me with hand pain. My physiatrist recently sent me to an OT to help with joint protection/pain, and they helped me out a great deal. We came up with new ways of doing household chores that are less painful. Anyway, they had me do a paraffin dip each time I went...what a difference! The dip really decreased the pain in my hands.Hands Q & A

Hands Q & A

Carpal Tunnel and CMTDr. Stuart D. Patterson of the Hand and Upper Limb Centre at St. Joseph's Health Centre in London, Ontario, Canada answers a reader's question as to whether it is possible to differentiate between carpal tunnel syndrome and Charcot-Marie-Tooth disease.

"Clearly, people with Charcot-Marie-Tooth disease can have coexistent carpal tunnel syndrome or any other peripheral nerve compression neuropathy. Unfortunately, it would be very difficult for a lay person to be able to differentiate between the two. However, if the individual is aware that there has been a unilateral significant deterioration in function with regards to sensation in particular, the cause may be an isolated peripheral nerve compression neuropathy. Charcot-Marie-Tooth neuropathy tends to be symmetrical with regards to sensory loss, and asymmetrical loss would suggest an additional problem. A well trained physician, who is familiar with carpal tunnel syndrome, should be able to differentiate on the basis of the history, physical examination, and electro diagnostic studies as to whether one is dealing with the effects of Charcot-Marie-Tooth disease, or the effects of a superimposed compression neuropathy, such as carpal tunnel syndrome. This is not an uncommon scenario when dealing with patients who are affected with diabetes mellitus. These patients have a similar peripheral neuropathy, but it is very common to find an associated peripheral nerve compression neuropathy.

It is difficult to provide a definitive answer to your question as to whether carpal tunnel surgery would be successful or unsuccessful in a patient with Charcot-Marie-Tooth disease. Intuitively, one would anticipate that the sensory loss that has occurred as a result of the carpal tunnel syndrome would improve. However, if the compression of the nerve has been prolonged, it is less likely that recovery of the affected muscles will occur. Generally though, if recovery is expected, this should occur within six months of a carpal tunnel release."

Feels like an electrical shockQ: I have found that when I am gripping something like a screwdriver it feels like an electrical shock going through my hand. Is this normal with the CMT?A: Dr. Greg Carter, Medical Director, Providence Rehabilitation Hospital, Chehalis, WA, USA answers: Probably could be part of the expected symptoms of CMT but I'd also get checked for carpal tunnel syndrome (CTS) with nerve conduction studies across the wrist. People with peripheral neuropathies like CMT and diabetes are at higher risk to develop CTS, which is basically a pinched median nerve at the wrist.By the way, vibration is very hard on nerves and can actually induce CTS (for example in chain saw or jackhammer operators or in motorcycle riders from gripping the vibrating handlebars).

TremorsQ: Gary Schockley, who is deaf and blind and has CMT asks: What makes my hands have a tremor in them? My doctor said my hands do not shake enough to take any medicine to help.A: Thomas Bird, M.D., Chief of Neurology, VA Medical Center, Seattle, WA, USA. answers: Some people with CMT have tremor in their hands. This is thought to be a result of the nerve disease causing a disruption of sensation in the fingers and arms. The particular loss of position sensation with loss of awareness of the limb and joints in space apparently causes the limb to move back and forth resulting in a tremor. Some persons have a tremor for other reasons. For example, it may be caused by medications, alcohol, caffeine, anxiety, or a separate hereditary condition. Medical treatment of tremor is non-specific and often unsatisfactory. There are a few medications that can partially alleviate tremor, but, of course, medications often have undesirable side effects.Orest Hurko, Associate Professor, Neurology and Medicine, The Center for Medical Genetics, The Johns Hopkins Hospital, Baltimore, MD, USA answers: Tremor is often encountered in association with CMT. It used to be thought that tremor and CMT represented a separate syndrome called Roussy-Levy syndrome. Most of us now agree that Roussy-Levy is not a separate syndrome but represents either the concordance of another common heritable condition called essential tremor with CMT or is the direct result of the CMT itself in susceptible individuals. The cause of essential tremor is not known but is widely thought to be a minor abnormality of the extra pyramidal system in the brain. Essential tremor appears to be transmitted as an autosomal dominant trait, in the same manner as are the most common forms of CMT. However, there is no reason to believe that the putative essential tremor gene(s) are linked to any of those responsible for CMT.Treatment for essential tremor is less than satisfactory. This type of tremor responds to benzodiazepine, minor tranquilizers, such as valium, and also to alcohol. Indeed, self-medication with alcohol has led to alcoholism in some individuals. The decision about wanting to treat with benzodiazepines has to be based on how badly the tremors affect an individuals patient. Is the trade-off for reduction of the tremors worth the potential side-effects? In some cases, the answer is yes. In other cases, it is better to live with a bit of tremor than take still another medication.The final caution is to realize that there are other types of tremors other than essential tremor. The resting tremor associated with Parkinson's disease and related syndromes responds to anticholinergic drugs and dopamine agonists rather than benzodiazepines. The intention tremor of cerebellar disease doesn't respond well to medications at all. Neither of these two remors are associated with what most doctors refer to as CMT. However, blindness and deafness are not features of CMT either. Gary should check to see if there may be some other underlying condition responsible for his tremor.

Finger clawed almost overnightCandie Mann, CA USA, writes: My hands/fingers are really getting bad. One finger on my right hand has clawed almost overnight. Boy, I thought I dropped things before! I also get tremors, but only in that finger. Weird, actually.Dr. Stuart Patterson answers: It is quite unusual for a finger to "suddenly" claw. Invariably, this has been progressing quietly for some time, until clumsiness, weakness or some other symptom draws attention to the digit(s). Sudden deterioration could be due to a superimposed condition, such as diabetes mellitus, trauma, a peripheral compression neuropathy or alcohol abuse, to name but a few. In general, the clawing is most severe in the small finger and then the ring, initially. This is due to the nerve supply to the small muscles of the hand. As the disease progresses, the remaining fingers become involved, until the point is reached that all the fingers may be equally severely involved.

Surgery can correct the deformity and improve hand function; no guarantee though. As this is a progressive condition, the corrective surgery can be negatively affected by progressive muscle weakness in the forearm. However, in general, most people with CMT have only the small muscles of the hand involved. The more proximal (towards the elbow) muscles are preserved until late in the disease process, or not affected at all.The finger tremor could be due to weakness or small spontaneous contractions in the muscles affected, which would be quite unusual. I do not know of any surgical treatment for that. Tremors can also be due to other conditions, such as age, Parkinson's disease, etc. However, these tremors are usually widespread.

Is it overuse?Q: I'm having a problem with my left hand, the two middle fingers mostly. Sometimes they will start clinching shut at night. However, nearly every morning I have to pry them open, it hurts. I have to do that several times before the clinching stops. There is a click feeling in the middle joints. That seems to have started since I am in the wheelchair more, so I am wondering if it has anything to do with grasping the wheels. I have to grasp the cane hard too! Wouldn't it be wonderful if we had all the answers! Geri Logan, MN, U.S.A.A: Dr. Stuart Patterson, orthopedic surgeon (hands) answers: This sounds absolutely typical for "trigger finger" and is not directly related to the CMT. Geri may well be right, in that this is as a result of repetitive hand work. The problem is the tendons that bend the fingers to make a fist develop an area of thickening on them that catches on a pulley in the palm that the tendons run through. When the bump on the tendon is pulled up against the pulley it gets stuck. You then have to pull the finger straight and the bump gets pulled into the pulley with a pop, which is painful. The treatment consists of splinting the finger in extension at night initially. If this does not work, then I would recommend that the tendon sheath be injected with cortisone. If this and the splinting are not effective, the pulley needs to be divided surgically under local anesthetic. This is a 30 minute operation, which is done as an outpatient.

Tendon and ligament problemsQ: Now that my muscles are getting weaker, I am experiencing more tendon and ligament problems. I sprained my thumb ligament so badly they were talking surgery, although it is now healing. My sister is having significant problems with tendonitis in her thumbs that is causing her great pain. When I asked the doctor about it, his response was, "Now that your muscles are weaker, your joints are going to get damaged." Then he walked out of the room, and I decided to find a new hand doctor. I am very interested in what we can do to protect our ligaments and tendons.Vicki Pollyea, FL, U.S.A.A: Dr. Patterson answers: When someone injures themselves and they have an underlying medical condition, the question often asked is whether the underlying condition was a factor. We should always remember that we are ALL at risk of an injury. In general, if we are injuring ourselves repeatedly and this is something new, then there may well be a link.

In Charcot-Marie-Tooth disease, the peripheral nerve damage results in permanent muscle atrophy (wasting). Why is this important for joints? The muscles, through their tendons, are attached to the bone. Muscles not only move joints, but they also have a role in stabilizing them. By this, I mean that the muscles are partly responsible for enduring that we do not dislocate our joints. The main or primary stabilizer of a joint is the fibrous joint capsule and its thickenings, called ligaments. However, without healthy muscles and tendons, joints can dislocate. Therefore, when the small muscles of the hand become weak, the joints that are intrinsically unstable are most at risk. These are joints that are not constrained or well captured by their bony architecture. For example, the ball and socket joint of the hip is very stable and not prone to dislocation, because the ball is well contained by the socket. As a result, it is very difficult to dislocate this joint. The joints of the thumb (interphalangeal, metacarpophalangeal and trapeziometacarpal joints) are not inherently stable, and if there is a loss of the joint stabilizers (muscles), instability can occur.

The simplest remedy to this problem, and probably the most effective, is the use of custom fabricated thermoplastic hand splints. These are removable splints made by hand therapists or occupational therapists out of plastics that are lightweight and can be moulded to fit your hand. If splints are not useful, then another alternative is surgery.The operations generally fall into two categories: fusions and tendon transfers. In the right patient, surgery is extremely effective in not only correcting deformities but also improving dexterity and strength.

Tendonitis is a different issue. Unfortunately, the term "tendonitis" is often used loosely and is often used to include a wide variety of problems, all with different causes, findings and treatment. The word itself is technically incorrect, as tendons do not become inflamed. Their lining, or tenosynovium, may become inflamed, in which case the correct term is tenosynovitis. This is a condition seen commonly in individuals who have rheumatoid arthritis or related conditions, such as psoriasis. It is also seen in manual workers who do repetitive activities with their hands and upper extremities. In addition, there is another group of conditions called enthesopathies, where the attachment of the tendon to the bone degenerates, tears and becomes painful. A good example of this is tennis elbow.

In general, most of these conditions are treated by activity modification, bracing, splinting, physical therapy and corticosteroid injections. Surgery is only resorted to when all other options have failed and the individual is severely incapacitated. As a rule, the results of surgery are unpredictable, with a 60% chance of success.

Pain in the hand is often referred to as being cause by "tendonitis." However, this is often a diagnosis provided to the patient, merely to give them a "label" or "hook to hang their hat on." By that, I mean the physician gives the patient a diagnosis so that, when they leave the office, the patient can now say, "I know what is wrong with me, I have tendonitis." However, that is not particularly helpful. I always try to be as specific as possible in defining the cause of the pain. This allows one to be more specific with treatment and hopefully obtain a more predictable outcome. It is not unusual for the pain to be a result of joint instability, arthritis or nerve compression. I may also have no idea as to the origin of the pain, and if that is the case, I will tell the patient that despite the frustration that arouses.

Nevertheless, by excluding a significant cause for the pain, I can tell the patient that there is no serious problem that is being missed.

Can't wear ringsQ: I can't bear to wear rings on my fingers. They continually bother me and I never get used to them as people say I will. Is there some reason for this?A: You may find rings difficult to wear if you have an increased sensation or hyperesthesia in your fingers. CMT nerves lose their myelin covering in a spotty more segmental fashion. Some CMT patients have increased pain or other sensations possibly when this process is happening.Linda here: I'm asked often by women with CMT what to do about earrings. Because we sometimes have very little thumb action we can't get them on, especially earrings for pierced ears. My answer (and I've worn them for 10 years) is earrings by Nina Ricci with French backs. These earrings have a post that goes through the hole in your ear lobe and a clip that goes over the post. You can't lose them and they are very easy to put on. There is no tiny back to try to position, sight unseen, using weak thumbs. They are available at better jewelry stores.

Hand exercise?Q: Is there some kind of hand exercises I can do to prevent my hands from getting weaker? Could you tell me why my hands get weak and what muscles usually deteriorate first and why?A: Dr. Richard E. Brown, a hand surgeon from SIU School of Medicine in Springfield IL answers: As noted in our study that we presented at the American Association of Hand Surgery in Boston, MA, patients with CMT frequently will develop weakness of their hands secondary to involvement of the nerves of the upper extremity. The hand involvement tends to begin somewhat after the onset of the lower extremity problems and are often overshadowed by the concerns with the lower legs. Because of the involvement of the nerves to the hand, the patients eventually develop marked wasting of the small muscles of the hand which are used for fine control of the fingers and positioning of the thumb. As with the lower extremity, the nerve involvement of the upper extremity is of a progressive nature and little can be done to prevent its onset or its progression. Once atrophy has occurred to a point that hand function is limited, reconstructive procedures can be done to improve the hand function at least temporarily.

Because the neuropathy itself is of a progressive nature, exercises cannot prevent the development of muscle atrophy. However, it is vitally important to maintain the range of motion of the joints of the hand through active use and passive range of motion exercises. Everyday use of the hand in normal day-to-day fashion is also beneficial in maintaining the tone of the muscles and maintaining the range of motion of the joints. Overuse of the hands in repetitive type occupations or leisure activities may actually cause a further deterioration of the nerves by a secondary compression problem such as carpal tunnel syndrome. An underlying peripheral neuropathy such as occurs in Charcot-Marie-Tooth disease can predispose to a secondary nerve compression syndrome which can then worsen the underlying neuropathy. Consequently, it is important not to overuse the hands in occupations that require repetitive type motions such as constant computer data input, repetitive factory or assembly line type work, meat cutting, etc. These repetitive type motions may be quite detrimental to the long term function of the hand.

In summary, the main nerves of the upper extremity do tend to be involved with Charcot-Marie-Tooth to a variable degree. The involvement may lead to weakness of the hand secondary to loss of innervation to the small muscles in the hand itself. The extrinsic muscles of the hands (i.e. the muscles in the forearm) tend to be involved less often. Normal day-to-day use and range of motion of the joints is important to maintain good mobility.

Strength deteriorates in inward patternQ: The strength in my hands seems to be deteriorating in an inward pattern. My hand strength is now concentrated in my thumb and the next two fingers. As the hand and finger strength deteriorates, those knuckles sink into my hand. Is this the usual way CMT progresses? Why?A: Dr. Lowell Williams answers: You describe a greater loss of muscles in the outside half of your hand than the inner half. Usually in CMT, strength is lost equally in the fingers but, depending on your activity, may be more noticeable in certain fingers. Check with a hand surgeon to see if you may also have nerve entrapment in your hand.

PeelingQ: There is something I would like to ask. I am getting sore, peeling patches between my fingers. The doctor says it is a form of athletes foot and has given me some cream for it. Unfortunately it doesn't seem to be working. Perhaps your other readers may have suffered this and have found something that helps. The doctor thinks it is because I can't open my fingers.A: Dr. Williams answers: The fungal infections that commonly occur between fingers and toes do resist treatment as you described, particularly when there are poor nerves to those areas as in CMT and diabetes. I suggest you ask your doctor to try another treatment salve (there are several available) and be patient. This is a common CMT problem and does take time to heal.

Muscle spasmsQ: I would like to know if any CMT patients have had difficulties unclenching their hands, and if so, what did they do about it? Do you know anything that might help?A: Dr. Williams: Muscle spasms are common in CMT and may be quite painful. Some of these may be due to poor circulation secondary to the nerve problems of the blood vessels in your hands. It sounds as if this might be your problem. Heat (warm water) or massage may help when it happens. If it occurs regularly, consult your doctor.(Editor's note: If you wake up with fists clenched hard, try forcing one hand open with the other and lying with them under your head for a few minutes or even under your buttocks. There are also night splints that can be prescribed and worn that will keep your fingers and hands from curling in and clenching throughout the night.)

Resources

Hand and wrist treatmentA journal article Nerve Decompression at the Wrist in Patients with Charcot-Marie-Tooth Disease by Drs. Chalekson, Brown, Gelber and Haws published in the journal Plastic and Reconstructive Surgery, Sept. 1999 pages 999-1002 could help some of us having hand and wrist problems. Dr. Richard E. Brown of Southern Illinois University School of Medicine, who is one of our longtime advisors, and his colleagues looked at five people with CMT who all had a variety of hand and wrist problems including burning, tingling and pain, weakness and a lessening ability to feel and to move the hand. While many people with CMT have these problems, they can be made worse by nerve entrapment such as carpal tunnel syndrome (CTS) occurring at the same time, and it can be very difficult to diagnose nerve entrapment in people who already have CMT.The paper records that a majority of the five patients improved clinically after nerve release procedures were done and, even more importantly to us, a majority of the patients (63%) had sustained relief of numbness, tingling and pain.The authors point out that when careful evaluation of both clinical signs and symptoms and nerve conduction information is obtained before surgery, and patients carefully selected, moderate to substantial relief can often be obtained.

The following item is from Gregory T. Carter, MD.Posterior Interosseus Nerve Entrapment in the Presence of Hereditary Motor and Sensory Neuropathy, Type I To briefly summarize in layman's terms the above journal article - I saw a 30-year-old gentleman who presented with a several-year history of painless progressive distal weakness. Physical exam showed symmetrically diminished reflexes and significant limb weakness. However, in the left upper arm only there was marked radial deviation of the wrist on extension, with extreme weakness in the finger and thumb extensors. He had a family history of CMT (HMSN type I) and was told by several other physicians that this represented an asymmetrical presentation of the disease. I saw him in consultation with performed nerve conduction studies, which the diagnosis of CMT. However, needle EMG studies revealed fibrillations limited to the left extensor carpi ulnaris and extensor indicis proprius. Forearm and elbow radiographs were normal and he was referred for surgical exploration. At surgery, the posterior interosseus nerve was found to be compressed at exit from the supinator muscle, with formation of large neuroma (nerve tumor) at that point. This case demonstrates the importance of considering a concomitant (accompanying) focal neuropathy in cases of hereditary neuropathy with asymmetric presentation.

Linda here: If you didn't quite get that, the good doctor is saying that this gentleman had what looked like an asymmetrical presentation of CMT, one side more affected than the other, when, in fact, he had a compressed nerve in that arm that was released through surgery and he now does not have the symptoms that led doctors to believe he was presenting asymmetrical CMT although he still has CMT.Be careful that you or your doctor doesn't always look to CMT for what is behind your symptoms, it could be something else, and in this case, it was!

Personal stories

Her pinch is back!Terese Gaugh of California writes:Recently I had the opportunity to work with a wonderful hand surgeon, Dr. Ross Nathan in Long Beach, California. His senior associate, Dr. Gerald Blatt, is also an excellent doctor and assisted with my surgery.Dr. Nathan thoroughly examined my hands and we decided hand surgery was possible. He performed tendon transplants and I now can touch my thumb tip to the other tips of my fingers. In other words, I can finally pinch my husband properly! I have many months of rehabilitation before I regain full use of my hand but I'm confident all will work out."

She needs her fingers for what they can doBarb Leuzzi of New York writes:My fingers are beginning not to do what I want them to do but we still like them, don't we. I need them for what they can do. Actually, they are just getting weaker. The hands and arms too. The full teapot and coffee pot are now too heavy for my hands, and I am beginning to find it difficult to turn the water faucets on, and my fingers don't always go where I want them to on the keyboard, but my fingers never flew across the keyboard. I could never type more than 55 words per minute with five errors. It was so frustrating when I went for a typing job. I was always told to go home and practise some more and then come back and retake the test. After a while I refused to do that because I knew it wouldn't help. I knew that was all my fingers were able to do but I didn't know why. Now I know. I know what is happening but the doctors said they don't see any muscle atrophy, therefore they don't believe me.I am able to type for my husband and he is a top salesman.

Grip improvedMicha Grillett of California writes:When I was 18 and 19, I had my thumbs operated on. I have never regretted having it done. In my case, the outer ligament of the third finger was severed and drawn back to an incision on the wrist. It was then rerouted and attached to the thumb. It hurt, naturally, and was in a cast for a while. You will have to work with it to establish a thought pattern that works only the thumb and not the third finger but it is established fairly easily.Although I still drop my pen occasionally, my grip was greatly improved and my manipulative strength is still excellent.

Surgery a successMarie Cibotti of Vermont writes:I was lucky to be diagnosed so quickly and correctly when the reason I went to a neurologist in the first place was simply to see if I had carpal tunnel syndrome. After several EMG tests and reading an article in the CMT Newsletter about carpal tunnel, I was encouraged to have the carpal tunnel release operation on both hands. The surgery was extremely successful for me. I am a teacher and I really need to be able to reach writing and computer skills. So far, I have been doing all I want to do with little or no pain in my hands or arms.

Tendon transfers didn't workMadeline Barbieri of Maine writes:The operation on my fingers (intrinsic tendon transfers) didn't do anything for me. The doctor took the tendons from my hands and wrist and put them in my fingers just below the knuckles. There is no improvement. I questioned the doctor and he said he couldn't go past the knuckles because they were fused.

A tribute to handsMichael Robinson of Alaska writes:My hands are constantly exposed to cold. The truck I operate has a good heater which I keep turned right up. When I leave the truck to do some work outside, I turn the heater up on high and switch the control over to vent. Then when I scramble back into the truck, the warm air is right there blowing on my stiff little fingers.About loving hands: these old hands have been cut, smashed, burned, frozen, covered with grease and oil, and who knows what kinds of "hot" solvents they have been soaked in over the years. They are slowly becoming less useable and I become very frustrated with them.My lovely wife says, "Be nice to them. They have done for you far longer than you should have expected them to. They can still hold another hand and rub a sore, tired back or shoulder." And, although slowly, they can still bang out words on this computer. When I watch fellow workers (mechanics and truck drivers and others), I tell them to take care of those hands, because they are awfully hard to do without. Take care everyone!

Finger Tips Try not to let your hands get cold in the first place - we all know how long they take to warm up and often, they will not warm up on their own. You'll need something warm to apply to them like a microwaved bean bag or a pocket warmer. Tuck your hands under your arms or between your legs if seated to benefit from body heat.Find some mitts you can wear if you can't get your fingers into gloves but put them on before your hands get cold.A muff that hangs around your neck and lets you put your hands in each end works well if you need your hands fast for gripping.A heat lamp or even a light bulb directed at the keyboard of your computer will help warm your hands.When washing your hands be patient and let the water run warm before washing.Dry your hands thoroughly after washing your hands. Wet hands are cold hands.Old-fashioned, linen face towels absorb water very quickly, drying your hands sometimes better than cotton or cotton blend towels. Linen towels can be bought in an antique store.Slip them under the dog.Hold hands with someone you care about. - LindaTo keep my hands in shape I slather them with Vaseline petroleum jelly and slip them into cotton gloves at night - BarbaraOne thing I do when my hands are cold is do the dishes or just put my hands under hot running water.I bought something at a local department store for $10 last winter. I could call it a "bean bag" but I thought it had corn husk in it. Perhaps it is seed corn. It is shaped like a fat snake and can go around the neck (or anywhere, I guess). I put it in the microwave for 2.5 minutes and it warms up nicely. The heat is slightly moist and lasts for maybe an hour. I have used it for my back and just to warm up my feet when I get into bed. I recall that they had other shapes when I bought this one. They would work for hands too and also in the car. - Susan.My hands shake by themselves, like if they have their own mind... especially the right one. Sometimes the shaking is so strong that I look at it in amazement. Before I knew I had CMT people used to ask me, "How come you're so nervous all the time?" They still do. But now I know. Then I used to think I was nervous and didn't know about it! - MariaThe tremors are getting worse in my hands and feet. Sometimes I feel like a walking earthquake. - P.K.Linda here: Some of our members have had great success using the drug Inderal for tremors.Sometimes I make a cup of hot tea, so I can wrap my hands around the mug. - Jean Ryan

Hand helpers

E-Z KeyFrom Leona Ingoldby, NY, USA. In one of your newsletters there was an article on the E-Z Key. I sent for one and it's the best thing since sliced bread. I have very little use of my fingers and it was getting so I couldn't turn the ignition. Now I can do it with one finger. E-Z Company USA, PO Box 13, Columbus, KS 66725 USA. (316)429-2797 or 1-800-492-3279.

MicrofoamBarbara Bishop, FL, USA writes: It is very difficult for me to grip a pen. I have lost the sensation in both my hands, and I would put a death grip on my pen which would, of course, cause severe numbness and pain that would travel half way up my arm. I started taping my pens with a foam surgical tape made by 3-M Company. It's called Microfoam and is 3" wide, soft and spongy, and you get a custom fit every time! Just wrap it around your pen as many times as will be comfortable for you.

Wrist dropby Linda Crabtree

I thought it wouldn't hurt to mention that just as we can have drop foot caused by the inability to move our feet up and down at the ankle, we can also have drop wrist.

For many years I plied my trade as a reporter, either taking notes or working on a computer keyboard, editing. My fingers were extremely weak but I managed to solve that solution by weaving pencils in and out of them to stiffen the middle ones. I now type bout 60 words per minute with few mistakes. However, I couldn't brace the weakening wrists without considerable bunching of wrapped Ace bandages. That's what I tried first, an Ace bandage, then I got a wrist support for people into sports. That worked for a while until it lost its stiffness and got very dirty. It didn't wash well and was also very noticeable and awkward. [splints]

I asked my doctor for an appointment with an orthopedic man and was sent to McMaster Hospital where I was prescribed a plastic brace that encompassed my entire hand and palm and wrist. I cried from sheer frustration and anger when I left the casting room because I knew it wasn't going to work and it wasn't what I wanted.

When I went back for my try-on, there it was. A real monster that was supposed to help me improve my pinch and stiffen my wrist. What it did was take away my ability to write as I do, type as I do and even turn the pages of a book as I do.

The orthotist who actually made the brace could see that it was an impossible situation and told me that he sees all kinds of braces brought back after a person has died, completely unworn because they never did do the trick in the first place. I needed a wrist brace and as we began cutting away at the original plan. It not only holds my wrist up but fits beautifully as it is casted to my arm. The Velcro is easy to undo with my other hand or my teeth and the whole thing can be washed.

I'm on my third brace now and I'm still able to write and type just fine.

I learned not to take the doctor's answer as an absolute. I'll listen but I know my CMT better than anyone and I know how my hands function better than anyone. Don't be afraid to ask for help to get what you need, also, don't be afraid to speak out and let your needs be known. It pays off in added independence.

Insurance

The way insurance works varies from country to country. You will get your guest information by going to the CMT Facebook page in your country, if there is one, and asking individuals how they have obtained both medical and life insurance. And the insurance broker may also be able to help you.

Medical Journal Articles

​​For up-to-date journal articles on CMT go to CMTAUSA.org, HNF-cure.org, Medline or any number of the medical journal sites out there. Most abstracts listed are free but some charge for the full articles. Use Charcot-Marie-Tooth disease or Hereditary Motor and Sensory Neuropathy.